Canonical Allele Identifier: CA002474
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55024
ClinVar RCV Id: RCV000112197
dbSNP Id: rs80358338

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091688_43091690del , CM000679.2:g.43091688_43091690del GRCh38
NC_000017.10:g.41243705_41243707del , CM000679.1:g.41243705_41243707del GRCh37
NC_000017.9:g.38497231_38497233del NCBI36
NG_005905.2:g.126294_126296del , LRG_292:g.126294_126296del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3905_3907del
ENST00000461574.2:c.3841_3843del ENSP00000417241.2:p.Gln1281del
ENST00000470026.6:c.3841_3843del ENSP00000419274.2:p.Gln1281del
ENST00000473961.6:c.3715_3717del ENSP00000420201.2:p.Gln1239del
ENST00000476777.6:c.3838_3840del ENSP00000417554.2:p.Gln1280del
ENST00000477152.6:c.3763_3765del ENSP00000419988.2:p.Gln1255del
ENST00000478531.6:c.785-658_785-656del ENSP00000420412.2:n.785-658_785-656del
ENST00000489037.2:c.3763_3765del ENSP00000420781.2:p.Gln1255del
ENST00000493919.6:c.647-658_647-656del ENSP00000418819.2:n.647-658_647-656del
ENST00000494123.6:c.3841_3843del ENSP00000419103.2:p.Gln1281del
ENST00000497488.2:c.2953_2955del ENSP00000418986.2:p.Gln985del
ENST00000618469.2:c.3841_3843del ENSP00000478114.2:p.Gln1281del
ENST00000634433.2:c.3718_3720del ENSP00000489431.2:p.Gln1240del
ENST00000644379.2:c.3841_3843del ENSP00000496570.2:p.Gln1281del
ENST00000644555.2:c.647-658_647-656del ENSP00000494614.2:n.647-658_647-656del
ENST00000652672.2:c.3700_3702del ENSP00000498906.2:p.Gln1234del
ENST00000484087.6:c.665-658_665-656del ENSP00000419481.2:n.665-658_665-656del
ENST00000700182.1:c.707-658_707-656del ENSP00000514849.1:n.707-658_707-656del
ENST00000357654.9:c.3841_3843del MANE Select ENSP00000350283.3:p.Gln1281del
ENST00000471181.7:c.3841_3843del ENSP00000418960.2:p.Gln1281del
ENST00000644379.1:c.162_164del
ENST00000352993.7:c.671-658_671-656del ENSP00000312236.5:n.671-658_671-656del
ENST00000354071.7:c.3841_3843del ENSP00000326002.7:p.Gln1281del
ENST00000357654.7:c.3841_3843del ENSP00000350283.3:p.Gln1281del
ENST00000461221.5:c.*3624_*3626del ENSP00000418548.1:n.*3624_*3626del
ENST00000461574.1:c.135_137del
ENST00000468300.5:c.788-658_788-656del ENSP00000417148.1:n.788-658_788-656del
ENST00000471181.6:c.3841_3843del ENSP00000418960.2:p.Gln1281del
ENST00000478531.5:c.785-658_785-656del ENSP00000420412.1:n.785-658_785-656del
ENST00000484087.5:c.410-658_410-656del ENSP00000419481.1:n.410-658_410-656del
ENST00000487825.5:c.413-658_413-656del ENSP00000418212.1:n.413-658_413-656del
ENST00000491747.6:c.788-658_788-656del ENSP00000420705.2:n.788-658_788-656del
ENST00000493795.5:c.3700_3702del ENSP00000418775.1:p.Gln1234del
ENST00000493919.5:c.647-658_647-656del ENSP00000418819.1:n.647-658_647-656del
ENST00000586385.5:c.5-27739_5-27737del ENSP00000465818.1:n.5-27739_5-27737del
ENST00000591534.5:c.-43-17169_-43-17167del ENSP00000467329.1:n.-43-17169_-43-17167de...
ENST00000591849.5:c.-99+33581_-99+33583del ENSP00000465347.1:n.-99+33581_-99+33583de...
NM_007294.3:c.3841_3843del , LRG_292t1:c.3841_3843del NP_009225.1:p.Gln1281del
NM_007297.3:c.3700_3702del NP_009228.2:p.Gln1234del
NM_007298.3:c.788-658_788-656del NP_009229.2:n.788-658_788-656del
NM_007299.3:c.788-658_788-656del NP_009230.2:n.788-658_788-656del
NM_007300.3:c.3841_3843del NP_009231.2:p.Gln1281del
NR_027676.1:n.3977_3979del
NM_007294.4:c.3841_3843del MANE Select NP_009225.1:p.Gln1281del
NM_007297.4:c.3700_3702del NP_009228.2:p.Gln1234del
NM_007299.4:c.788-658_788-656del NP_009230.2:n.788-658_788-656del
NM_007300.4:c.3841_3843del NP_009231.2:p.Gln1281del
NR_027676.2:n.4018_4020del