chr17:41246531 CTT>C
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.1015_1016del
- Protein
- p.K339fs
- Function
- frameshift del
- Localization
- exon
- hg19
- chr17:41246531 CTT>C
- dbSNP
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.874_875del
- p.K292fs
- NM_007300.3
- c.1015_1016del
- p.K339fs
- NM_007298.3
- c.787+228_787+229delAA
- NM_007299.3
- c.787+228_787+229delAA
- NR_027676.1
- n.1151_1152delAA
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –