Canonical Allele Identifier: CA002187
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54861
dbSNP Id: rs80357828

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092159_43092160del , CM000679.2:g.43092159_43092160del GRCh38
NC_000017.10:g.41244176_41244177del , CM000679.1:g.41244176_41244177del GRCh37
NC_000017.9:g.38497702_38497703del NCBI36
NG_005905.2:g.125828_125829del , LRG_292:g.125828_125829del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3439_3440del
ENST00000461574.2:c.3375_3376del ENSP00000417241.2:p.Pro1126IlefsTer6
ENST00000470026.6:c.3375_3376del ENSP00000419274.2:p.Pro1126IlefsTer6
ENST00000473961.6:c.3249_3250del ENSP00000420201.2:p.Pro1084IlefsTer6
ENST00000476777.6:c.3372_3373del ENSP00000417554.2:p.Pro1125IlefsTer6
ENST00000477152.6:c.3297_3298del ENSP00000419988.2:p.Pro1100IlefsTer6
ENST00000478531.6:c.785-1124_785-1123del ENSP00000420412.2:n.785-1124_785-1123del
ENST00000489037.2:c.3297_3298del ENSP00000420781.2:p.Pro1100IlefsTer6
ENST00000493919.6:c.647-1124_647-1123del ENSP00000418819.2:n.647-1124_647-1123del
ENST00000494123.6:c.3375_3376del ENSP00000419103.2:p.Pro1126IlefsTer6
ENST00000497488.2:c.2487_2488del ENSP00000418986.2:p.Pro830IlefsTer6
ENST00000618469.2:c.3375_3376del ENSP00000478114.2:p.Pro1126IlefsTer6
ENST00000634433.2:c.3252_3253del ENSP00000489431.2:p.Pro1085IlefsTer6
ENST00000644379.2:c.3375_3376del ENSP00000496570.2:p.Pro1126IlefsTer6
ENST00000644555.2:c.647-1124_647-1123del ENSP00000494614.2:n.647-1124_647-1123del
ENST00000652672.2:c.3234_3235del ENSP00000498906.2:p.Pro1079IlefsTer6
ENST00000484087.6:c.665-1124_665-1123del ENSP00000419481.2:n.665-1124_665-1123del
ENST00000700182.1:c.707-1124_707-1123del ENSP00000514849.1:n.707-1124_707-1123del
ENST00000357654.9:c.3375_3376del MANE Select ENSP00000350283.3:p.Pro1126IlefsTer6
ENST00000471181.7:c.3375_3376del ENSP00000418960.2:p.Pro1126IlefsTer6
ENST00000352993.7:c.671-1124_671-1123del ENSP00000312236.5:n.671-1124_671-1123del
ENST00000354071.7:c.3375_3376del ENSP00000326002.7:p.Pro1126IlefsTer6
ENST00000357654.7:c.3375_3376del ENSP00000350283.3:p.Pro1126IlefsTer6
ENST00000461221.5:c.*3158_*3159del ENSP00000418548.1:n.*3158_*3159del
ENST00000468300.5:c.788-1124_788-1123del ENSP00000417148.1:n.788-1124_788-1123del
ENST00000471181.6:c.3375_3376del ENSP00000418960.2:p.Pro1126IlefsTer6
ENST00000478531.5:c.785-1124_785-1123del ENSP00000420412.1:n.785-1124_785-1123del
ENST00000484087.5:c.410-1124_410-1123del ENSP00000419481.1:n.410-1124_410-1123del
ENST00000487825.5:c.413-1124_413-1123del ENSP00000418212.1:n.413-1124_413-1123del
ENST00000491747.6:c.788-1124_788-1123del ENSP00000420705.2:n.788-1124_788-1123del
ENST00000493795.5:c.3234_3235del ENSP00000418775.1:p.Pro1079IlefsTer6
ENST00000493919.5:c.647-1124_647-1123del ENSP00000418819.1:n.647-1124_647-1123del
ENST00000586385.5:c.5-28205_5-28204del ENSP00000465818.1:n.5-28205_5-28204del
ENST00000591534.5:c.-43-17635_-43-17634del ENSP00000467329.1:n.-43-17635_-43-17634de...
ENST00000591849.5:c.-99+33115_-99+33116del ENSP00000465347.1:n.-99+33115_-99+33116de...
NM_007294.3:c.3375_3376del , LRG_292t1:c.3375_3376del NP_009225.1:p.Pro1126IlefsTer6
NM_007297.3:c.3234_3235del NP_009228.2:p.Pro1079IlefsTer6
NM_007298.3:c.788-1124_788-1123del NP_009229.2:n.788-1124_788-1123del
NM_007299.3:c.788-1124_788-1123del NP_009230.2:n.788-1124_788-1123del
NM_007300.3:c.3375_3376del NP_009231.2:p.Pro1126IlefsTer6
NR_027676.1:n.3511_3512del
NM_007294.4:c.3375_3376del MANE Select NP_009225.1:p.Pro1126IlefsTer6
NM_007297.4:c.3234_3235del NP_009228.2:p.Pro1079IlefsTer6
NM_007299.4:c.788-1124_788-1123del NP_009230.2:n.788-1124_788-1123del
NM_007300.4:c.3375_3376del NP_009231.2:p.Pro1126IlefsTer6
NR_027676.2:n.3552_3553del