Canonical Allele Identifier: CA001864
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54702
dbSNP Id: rs80357819

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092664_43092668del , CM000679.2:g.43092664_43092668del GRCh38
NC_000017.10:g.41244681_41244685del , CM000679.1:g.41244681_41244685del GRCh37
NC_000017.9:g.38498207_38498211del NCBI36
NG_005905.2:g.125319_125323del , LRG_292:g.125319_125323del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.2930_2934del
ENST00000461574.2:c.2866_2870del ENSP00000417241.2:p.Ser956ValfsTer13
ENST00000470026.6:c.2866_2870del ENSP00000419274.2:p.Ser956ValfsTer13
ENST00000473961.6:c.2740_2744del ENSP00000420201.2:p.Ser914ValfsTer13
ENST00000476777.6:c.2863_2867del ENSP00000417554.2:p.Ser955ValfsTer13
ENST00000477152.6:c.2788_2792del ENSP00000419988.2:p.Ser930ValfsTer13
ENST00000478531.6:c.785-1633_785-1629del ENSP00000420412.2:n.785-1633_785-1629del
ENST00000489037.2:c.2788_2792del ENSP00000420781.2:p.Ser930ValfsTer13
ENST00000493919.6:c.647-1633_647-1629del ENSP00000418819.2:n.647-1633_647-1629del
ENST00000494123.6:c.2866_2870del ENSP00000419103.2:p.Ser956ValfsTer13
ENST00000497488.2:c.1978_1982del ENSP00000418986.2:p.Ser660ValfsTer13
ENST00000618469.2:c.2866_2870del ENSP00000478114.2:p.Ser956ValfsTer13
ENST00000634433.2:c.2743_2747del ENSP00000489431.2:p.Ser915ValfsTer13
ENST00000644379.2:c.2866_2870del ENSP00000496570.2:p.Ser956ValfsTer13
ENST00000644555.2:c.647-1633_647-1629del ENSP00000494614.2:n.647-1633_647-1629del
ENST00000652672.2:c.2725_2729del ENSP00000498906.2:p.Ser909ValfsTer13
ENST00000484087.6:c.665-1633_665-1629del ENSP00000419481.2:n.665-1633_665-1629del
ENST00000700182.1:c.707-1633_707-1629del ENSP00000514849.1:n.707-1633_707-1629del
ENST00000357654.9:c.2866_2870del MANE Select ENSP00000350283.3:p.Ser956ValfsTer13
ENST00000471181.7:c.2866_2870del ENSP00000418960.2:p.Ser956ValfsTer13
ENST00000352993.7:c.671-1633_671-1629del ENSP00000312236.5:n.671-1633_671-1629del
ENST00000354071.7:c.2866_2870del ENSP00000326002.7:p.Ser956ValfsTer13
ENST00000357654.7:c.2866_2870del ENSP00000350283.3:p.Ser956ValfsTer13
ENST00000461221.5:c.*2649_*2653del ENSP00000418548.1:n.*2649_*2653del
ENST00000468300.5:c.788-1633_788-1629del ENSP00000417148.1:n.788-1633_788-1629del
ENST00000471181.6:c.2866_2870del ENSP00000418960.2:p.Ser956ValfsTer13
ENST00000478531.5:c.785-1633_785-1629del ENSP00000420412.1:n.785-1633_785-1629del
ENST00000484087.5:c.410-1633_410-1629del ENSP00000419481.1:n.410-1633_410-1629del
ENST00000487825.5:c.413-1633_413-1629del ENSP00000418212.1:n.413-1633_413-1629del
ENST00000491747.6:c.788-1633_788-1629del ENSP00000420705.2:n.788-1633_788-1629del
ENST00000493795.5:c.2725_2729del ENSP00000418775.1:p.Ser909ValfsTer13
ENST00000493919.5:c.647-1633_647-1629del ENSP00000418819.1:n.647-1633_647-1629del
ENST00000586385.5:c.5-28714_5-28710del ENSP00000465818.1:n.5-28714_5-28710del
ENST00000591534.5:c.-43-18144_-43-18140del ENSP00000467329.1:n.-43-18144_-43-18140de...
ENST00000591849.5:c.-99+32606_-99+32610del ENSP00000465347.1:n.-99+32606_-99+32610de...
NM_007294.3:c.2866_2870del , LRG_292t1:c.2866_2870del NP_009225.1:p.Ser956ValfsTer13
NM_007297.3:c.2725_2729del NP_009228.2:p.Ser909ValfsTer13
NM_007298.3:c.788-1633_788-1629del NP_009229.2:n.788-1633_788-1629del
NM_007299.3:c.788-1633_788-1629del NP_009230.2:n.788-1633_788-1629del
NM_007300.3:c.2866_2870del NP_009231.2:p.Ser956ValfsTer13
NR_027676.1:n.3002_3006del
NM_007294.4:c.2866_2870del MANE Select NP_009225.1:p.Ser956ValfsTer13
NM_007297.4:c.2725_2729del NP_009228.2:p.Ser909ValfsTer13
NM_007299.4:c.788-1633_788-1629del NP_009230.2:n.788-1633_788-1629del
NM_007300.4:c.2866_2870del NP_009231.2:p.Ser956ValfsTer13
NR_027676.2:n.3043_3047del