Canonical Allele Identifier: CA327847
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092583dup , CM000679.2:g.43092583dup GRCh38
NC_000017.10:g.41244600dup , CM000679.1:g.41244600dup GRCh37
NC_000017.9:g.38498126dup NCBI36
NG_005905.2:g.125405dup , LRG_292:g.125405dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3016dup
ENST00000461574.2:c.2952dup ENSP00000417241.2:p.Pro985SerfsTer7
ENST00000470026.6:c.2952dup ENSP00000419274.2:p.Pro985SerfsTer7
ENST00000473961.6:c.2826dup ENSP00000420201.2:p.Pro943SerfsTer7
ENST00000476777.6:c.2949dup ENSP00000417554.2:p.Pro984SerfsTer7
ENST00000477152.6:c.2874dup ENSP00000419988.2:p.Pro959SerfsTer7
ENST00000478531.6:c.785-1547dup ENSP00000420412.2:n.785-1547dup
ENST00000489037.2:c.2874dup ENSP00000420781.2:p.Pro959SerfsTer7
ENST00000493919.6:c.647-1547dup ENSP00000418819.2:n.647-1547dup
ENST00000494123.6:c.2952dup ENSP00000419103.2:p.Pro985SerfsTer7
ENST00000497488.2:c.2064dup ENSP00000418986.2:p.Pro689SerfsTer7
ENST00000618469.2:c.2952dup ENSP00000478114.2:p.Pro985SerfsTer7
ENST00000634433.2:c.2829dup ENSP00000489431.2:p.Pro944SerfsTer7
ENST00000644379.2:c.2952dup ENSP00000496570.2:p.Pro985SerfsTer7
ENST00000644555.2:c.647-1547dup ENSP00000494614.2:n.647-1547dup
ENST00000652672.2:c.2811dup ENSP00000498906.2:p.Pro938SerfsTer7
ENST00000484087.6:c.665-1547dup ENSP00000419481.2:n.665-1547dup
ENST00000700182.1:c.707-1547dup ENSP00000514849.1:n.707-1547dup
ENST00000357654.9:c.2952dup MANE Select ENSP00000350283.3:p.Pro985SerfsTer7
ENST00000471181.7:c.2952dup ENSP00000418960.2:p.Pro985SerfsTer7
ENST00000352993.7:c.671-1547dup ENSP00000312236.5:n.671-1547dup
ENST00000354071.7:c.2952dup ENSP00000326002.7:p.Pro985SerfsTer7
ENST00000357654.7:c.2952dup ENSP00000350283.3:p.Pro985SerfsTer7
ENST00000461221.5:c.*2735dup ENSP00000418548.1:n.*2735dup
ENST00000468300.5:c.788-1547dup ENSP00000417148.1:n.788-1547dup
ENST00000471181.6:c.2952dup ENSP00000418960.2:p.Pro985SerfsTer7
ENST00000478531.5:c.785-1547dup ENSP00000420412.1:n.785-1547dup
ENST00000484087.5:c.410-1547dup ENSP00000419481.1:n.410-1547dup
ENST00000487825.5:c.413-1547dup ENSP00000418212.1:n.413-1547dup
ENST00000491747.6:c.788-1547dup ENSP00000420705.2:n.788-1547dup
ENST00000493795.5:c.2811dup ENSP00000418775.1:p.Pro938SerfsTer7
ENST00000493919.5:c.647-1547dup ENSP00000418819.1:n.647-1547dup
ENST00000586385.5:c.5-28628dup ENSP00000465818.1:n.5-28628dup
ENST00000591534.5:c.-43-18058dup ENSP00000467329.1:n.-43-18058dup
ENST00000591849.5:c.-99+32692dup ENSP00000465347.1:n.-99+32692dup
NM_007294.3:c.2952dup , LRG_292t1:c.2952dup NP_009225.1:p.Pro985SerfsTer7
NM_007297.3:c.2811dup NP_009228.2:p.Pro938SerfsTer7
NM_007298.3:c.788-1547dup NP_009229.2:n.788-1547dup
NM_007299.3:c.788-1547dup NP_009230.2:n.788-1547dup
NM_007300.3:c.2952dup NP_009231.2:p.Pro985SerfsTer7
NR_027676.1:n.3088dup
NM_007294.4:c.2952dup MANE Select NP_009225.1:p.Pro985SerfsTer7
NM_007297.4:c.2811dup NP_009228.2:p.Pro938SerfsTer7
NM_007299.4:c.788-1547dup NP_009230.2:n.788-1547dup
NM_007300.4:c.2952dup NP_009231.2:p.Pro985SerfsTer7
NR_027676.2:n.3129dup