Canonical Allele Identifier: CA2579756133
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091435_43094859dup , CM000679.2:g.43091435_43094859dup GRCh38
NC_000017.10:g.41243452_41246876dup , CM000679.1:g.41243452_41246876dup GRCh37
NC_000017.9:g.38496978_38500402dup NCBI36
NG_005905.2:g.123125_126549dup , LRG_292:g.123125_126549dup

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.736_4160dup
ENST00000461574.2:c.672_4096dup ENSP00000417241.2:p.Gly1366ValfsTer10
ENST00000470026.6:c.672_4096dup ENSP00000419274.2:p.Gly1366ValfsTer10
ENST00000473961.6:c.546_3970dup ENSP00000420201.2:p.Gly1324ValfsTer10
ENST00000476777.6:c.669_4093dup ENSP00000417554.2:p.Gly1365ValfsTer10
ENST00000477152.6:c.594_4018dup ENSP00000419988.2:p.Gly1340ValfsTer10
ENST00000478531.6:c.669_785-403dup
ENST00000489037.2:c.594_4018dup ENSP00000420781.2:p.Gly1340ValfsTer10
ENST00000493919.6:c.531_647-403dup
ENST00000494123.6:c.672_4096dup ENSP00000419103.2:p.Gly1366ValfsTer10
ENST00000497488.2:c.-217_3208dup ENSP00000418986.2:p.Gly1070ValfsTer10
ENST00000618469.2:c.672_4096dup ENSP00000478114.2:p.Gly1366ValfsTer10
ENST00000634433.2:c.549_3973dup ENSP00000489431.2:p.Gly1325ValfsTer10
ENST00000644379.2:c.672_4096dup ENSP00000496570.2:p.Gly1366ValfsTer10
ENST00000644555.2:c.531_647-403dup
ENST00000652672.2:c.531_3955dup ENSP00000498906.2:p.Gly1319ValfsTer10
ENST00000484087.6:c.549_665-403dup
ENST00000700182.1:c.591_707-403dup
ENST00000357654.9:c.672_4096dup MANE Select ENSP00000350283.3:p.Gly1366ValfsTer10
ENST00000471181.7:c.672_4096dup ENSP00000418960.2:p.Gly1366ValfsTer10
ENST00000352993.7:c.670+987_671-403dup ENSP00000312236.5:n.670+987_671-403dup
ENST00000354071.7:c.672_4096dup ENSP00000326002.7:p.Gly1366ValfsTer10
ENST00000357654.7:c.672_4096dup ENSP00000350283.3:p.Gly1366ValfsTer10
ENST00000461221.5:c.*455_*3879dup ENSP00000418548.1:n.*455_*3879dup
ENST00000468300.5:c.672_788-403dup
ENST00000471181.6:c.672_4096dup ENSP00000418960.2:p.Gly1366ValfsTer10
ENST00000478531.5:c.669_785-403dup
ENST00000484087.5:c.294_410-403dup
ENST00000487825.5:c.297_413-403dup
ENST00000491747.6:c.672_788-403dup
ENST00000493795.5:c.531_3955dup ENSP00000418775.1:p.Gly1319ValfsTer10
ENST00000493919.5:c.531_647-403dup
ENST00000586385.5:c.4+30323_5-27484dup ENSP00000465818.1:n.4+30323_5-27484dup
ENST00000591534.5:c.-43-20338_-43-16914dup ENSP00000467329.1:n.-43-20338_-43-16914du...
ENST00000591849.5:c.-99+30412_-99+33836dup ENSP00000465347.1:n.-99+30412_-99+33836du...
NM_007294.3:c.672_4096dup , LRG_292t1:c.672_4096dup NP_009225.1:p.Gly1366ValfsTer10
NM_007297.3:c.531_3955dup NP_009228.2:p.Gly1319ValfsTer10
NM_007298.3:c.672_788-403dup
NM_007299.3:c.672_788-403dup
NM_007300.3:c.672_4096dup NP_009231.2:p.Gly1366ValfsTer10
NR_027676.1:n.808_4232dup
NM_007294.4:c.672_4096dup MANE Select NP_009225.1:p.Gly1366ValfsTer10
NM_007297.4:c.531_3955dup NP_009228.2:p.Gly1319ValfsTer10
NM_007299.4:c.672_788-403dup
NM_007300.4:c.672_4096dup NP_009231.2:p.Gly1366ValfsTer10
NR_027676.2:n.849_4273dup