Canonical Allele Identifier: CA002149
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 37523
dbSNP Id: rs80357701

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092200_43092203del , CM000679.2:g.43092200_43092203del GRCh38
NC_000017.10:g.41244217_41244220del , CM000679.1:g.41244217_41244220del GRCh37
NC_000017.9:g.38497743_38497746del NCBI36
NG_005905.2:g.125784_125787del , LRG_292:g.125784_125787del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3395_3398del
ENST00000461574.2:c.3331_3334del ENSP00000417241.2:p.Gln1111AsnfsTer5
ENST00000470026.6:c.3331_3334del ENSP00000419274.2:p.Gln1111AsnfsTer5
ENST00000473961.6:c.3205_3208del ENSP00000420201.2:p.Gln1069AsnfsTer5
ENST00000476777.6:c.3328_3331del ENSP00000417554.2:p.Gln1110AsnfsTer5
ENST00000477152.6:c.3253_3256del ENSP00000419988.2:p.Gln1085AsnfsTer5
ENST00000478531.6:c.785-1168_785-1165del ENSP00000420412.2:n.785-1168_785-1165del
ENST00000489037.2:c.3253_3256del ENSP00000420781.2:p.Gln1085AsnfsTer5
ENST00000493919.6:c.647-1168_647-1165del ENSP00000418819.2:n.647-1168_647-1165del
ENST00000494123.6:c.3331_3334del ENSP00000419103.2:p.Gln1111AsnfsTer5
ENST00000497488.2:c.2443_2446del ENSP00000418986.2:p.Gln815AsnfsTer5
ENST00000618469.2:c.3331_3334del ENSP00000478114.2:p.Gln1111AsnfsTer5
ENST00000634433.2:c.3208_3211del ENSP00000489431.2:p.Gln1070AsnfsTer5
ENST00000644379.2:c.3331_3334del ENSP00000496570.2:p.Gln1111AsnfsTer5
ENST00000644555.2:c.647-1168_647-1165del ENSP00000494614.2:n.647-1168_647-1165del
ENST00000652672.2:c.3190_3193del ENSP00000498906.2:p.Gln1064AsnfsTer5
ENST00000484087.6:c.665-1168_665-1165del ENSP00000419481.2:n.665-1168_665-1165del
ENST00000700182.1:c.707-1168_707-1165del ENSP00000514849.1:n.707-1168_707-1165del
ENST00000357654.9:c.3331_3334del MANE Select ENSP00000350283.3:p.Gln1111AsnfsTer5
ENST00000471181.7:c.3331_3334del ENSP00000418960.2:p.Gln1111AsnfsTer5
ENST00000352993.7:c.671-1168_671-1165del ENSP00000312236.5:n.671-1168_671-1165del
ENST00000354071.7:c.3331_3334del ENSP00000326002.7:p.Gln1111AsnfsTer5
ENST00000357654.7:c.3331_3334del ENSP00000350283.3:p.Gln1111AsnfsTer5
ENST00000461221.5:c.*3114_*3117del ENSP00000418548.1:n.*3114_*3117del
ENST00000468300.5:c.788-1168_788-1165del ENSP00000417148.1:n.788-1168_788-1165del
ENST00000471181.6:c.3331_3334del ENSP00000418960.2:p.Gln1111AsnfsTer5
ENST00000478531.5:c.785-1168_785-1165del ENSP00000420412.1:n.785-1168_785-1165del
ENST00000484087.5:c.410-1168_410-1165del ENSP00000419481.1:n.410-1168_410-1165del
ENST00000487825.5:c.413-1168_413-1165del ENSP00000418212.1:n.413-1168_413-1165del
ENST00000491747.6:c.788-1168_788-1165del ENSP00000420705.2:n.788-1168_788-1165del
ENST00000493795.5:c.3190_3193del ENSP00000418775.1:p.Gln1064AsnfsTer5
ENST00000493919.5:c.647-1168_647-1165del ENSP00000418819.1:n.647-1168_647-1165del
ENST00000586385.5:c.5-28249_5-28246del ENSP00000465818.1:n.5-28249_5-28246del
ENST00000591534.5:c.-43-17679_-43-17676del ENSP00000467329.1:n.-43-17679_-43-17676de...
ENST00000591849.5:c.-99+33071_-99+33074del ENSP00000465347.1:n.-99+33071_-99+33074de...
NM_007294.3:c.3331_3334del , LRG_292t1:c.3331_3334del NP_009225.1:p.Gln1111AsnfsTer5
NM_007297.3:c.3190_3193del NP_009228.2:p.Gln1064AsnfsTer5
NM_007298.3:c.788-1168_788-1165del NP_009229.2:n.788-1168_788-1165del
NM_007299.3:c.788-1168_788-1165del NP_009230.2:n.788-1168_788-1165del
NM_007300.3:c.3331_3334del NP_009231.2:p.Gln1111AsnfsTer5
NR_027676.1:n.3467_3470del
NM_007294.4:c.3331_3334del MANE Select NP_009225.1:p.Gln1111AsnfsTer5
NM_007297.4:c.3190_3193del NP_009228.2:p.Gln1064AsnfsTer5
NM_007299.4:c.788-1168_788-1165del NP_009230.2:n.788-1168_788-1165del
NM_007300.4:c.3331_3334del NP_009231.2:p.Gln1111AsnfsTer5
NR_027676.2:n.3508_3511del