Canonical Allele Identifier: CA2499224477
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1050776
ClinVar RCV Id: RCV001358632
dbSNP Id: rs2154335955

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092306_43092307del , CM000679.2:g.43092306_43092307del GRCh38
NC_000017.10:g.41244323_41244324del , CM000679.1:g.41244323_41244324del GRCh37
NC_000017.9:g.38497849_38497850del NCBI36
NG_005905.2:g.125678_125679del , LRG_292:g.125678_125679del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3289_3290del
ENST00000461574.2:c.3225_3226del ENSP00000417241.2:p.Asn1075LysfsTer10
ENST00000470026.6:c.3225_3226del ENSP00000419274.2:p.Asn1075LysfsTer10
ENST00000473961.6:c.3099_3100del ENSP00000420201.2:p.Asn1033LysfsTer10
ENST00000476777.6:c.3222_3223del ENSP00000417554.2:p.Asn1074LysfsTer10
ENST00000477152.6:c.3147_3148del ENSP00000419988.2:p.Asn1049LysfsTer10
ENST00000478531.6:c.785-1274_785-1273del ENSP00000420412.2:n.785-1274_785-1273del
ENST00000489037.2:c.3147_3148del ENSP00000420781.2:p.Asn1049LysfsTer10
ENST00000493919.6:c.647-1274_647-1273del ENSP00000418819.2:n.647-1274_647-1273del
ENST00000494123.6:c.3225_3226del ENSP00000419103.2:p.Asn1075LysfsTer10
ENST00000497488.2:c.2337_2338del ENSP00000418986.2:p.Asn779LysfsTer10
ENST00000618469.2:c.3225_3226del ENSP00000478114.2:p.Asn1075LysfsTer10
ENST00000634433.2:c.3102_3103del ENSP00000489431.2:p.Asn1034LysfsTer10
ENST00000644379.2:c.3225_3226del ENSP00000496570.2:p.Asn1075LysfsTer10
ENST00000644555.2:c.647-1274_647-1273del ENSP00000494614.2:n.647-1274_647-1273del
ENST00000652672.2:c.3084_3085del ENSP00000498906.2:p.Asn1028LysfsTer10
ENST00000484087.6:c.665-1274_665-1273del ENSP00000419481.2:n.665-1274_665-1273del
ENST00000700182.1:c.707-1274_707-1273del ENSP00000514849.1:n.707-1274_707-1273del
ENST00000357654.9:c.3225_3226del MANE Select ENSP00000350283.3:p.Asn1075LysfsTer10
ENST00000471181.7:c.3225_3226del ENSP00000418960.2:p.Asn1075LysfsTer10
ENST00000352993.7:c.671-1274_671-1273del ENSP00000312236.5:n.671-1274_671-1273del
ENST00000354071.7:c.3225_3226del ENSP00000326002.7:p.Asn1075LysfsTer10
ENST00000357654.7:c.3225_3226del ENSP00000350283.3:p.Asn1075LysfsTer10
ENST00000461221.5:c.*3008_*3009del ENSP00000418548.1:n.*3008_*3009del
ENST00000468300.5:c.788-1274_788-1273del ENSP00000417148.1:n.788-1274_788-1273del
ENST00000471181.6:c.3225_3226del ENSP00000418960.2:p.Asn1075LysfsTer10
ENST00000478531.5:c.785-1274_785-1273del ENSP00000420412.1:n.785-1274_785-1273del
ENST00000484087.5:c.410-1274_410-1273del ENSP00000419481.1:n.410-1274_410-1273del
ENST00000487825.5:c.413-1274_413-1273del ENSP00000418212.1:n.413-1274_413-1273del
ENST00000491747.6:c.788-1274_788-1273del ENSP00000420705.2:n.788-1274_788-1273del
ENST00000493795.5:c.3084_3085del ENSP00000418775.1:p.Asn1028LysfsTer10
ENST00000493919.5:c.647-1274_647-1273del ENSP00000418819.1:n.647-1274_647-1273del
ENST00000586385.5:c.5-28355_5-28354del ENSP00000465818.1:n.5-28355_5-28354del
ENST00000591534.5:c.-43-17785_-43-17784del ENSP00000467329.1:n.-43-17785_-43-17784del
ENST00000591849.5:c.-99+32965_-99+32966del ENSP00000465347.1:n.-99+32965_-99+32966del
NM_007294.3:c.3225_3226del , LRG_292t1:c.3225_3226del NP_009225.1:p.Asn1075LysfsTer10
NM_007297.3:c.3084_3085del NP_009228.2:p.Asn1028LysfsTer10
NM_007298.3:c.788-1274_788-1273del NP_009229.2:n.788-1274_788-1273del
NM_007299.3:c.788-1274_788-1273del NP_009230.2:n.788-1274_788-1273del
NM_007300.3:c.3225_3226del NP_009231.2:p.Asn1075LysfsTer10
NR_027676.1:n.3361_3362del
NM_007294.4:c.3225_3226del MANE Select NP_009225.1:p.Asn1075LysfsTer10
NM_007297.4:c.3084_3085del NP_009228.2:p.Asn1028LysfsTer10
NM_007299.4:c.788-1274_788-1273del NP_009230.2:n.788-1274_788-1273del
NM_007300.4:c.3225_3226del NP_009231.2:p.Asn1075LysfsTer10
NR_027676.2:n.3402_3403del