Canonical Allele Identifier: CA003400
Gene: BRCA1 HGNC NCBI
BRCA Exchange:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43057070del , CM000679.2:g.43057070del GRCh38
NC_000017.10:g.41209087del , CM000679.1:g.41209087del GRCh37
NC_000017.9:g.38462613del NCBI36
NG_005905.2:g.160914del , LRG_292:g.160914del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5256del ENSP00000417241.2:p.Glu1753AsnfsTer11
ENST00000470026.6:c.5259del ENSP00000419274.2:p.Glu1754AsnfsTer11
ENST00000473961.6:c.5133del ENSP00000420201.2:p.Glu1712AsnfsTer11
ENST00000476777.6:c.5253del ENSP00000417554.2:p.Glu1752AsnfsTer11
ENST00000477152.6:c.5181del ENSP00000419988.2:p.Glu1728AsnfsTer11
ENST00000478531.6:c.1947del ENSP00000420412.2:p.Glu650AsnfsTer11
ENST00000489037.2:c.5181del ENSP00000420781.2:p.Glu1728AsnfsTer11
ENST00000493919.6:c.1809del ENSP00000418819.2:p.Glu604AsnfsTer11
ENST00000494123.6:c.5259del ENSP00000419103.2:p.Glu1754AsnfsTer11
ENST00000497488.2:c.4371del ENSP00000418986.2:p.Glu1458AsnfsTer11
ENST00000618469.2:c.5259del ENSP00000478114.2:p.Glu1754AsnfsTer11
ENST00000634433.2:c.5136del ENSP00000489431.2:p.Glu1713AsnfsTer11
ENST00000644379.2:c.5325del ENSP00000496570.2:p.Glu1776AsnfsTer11
ENST00000644555.2:c.1809del ENSP00000494614.2:p.Glu604AsnfsTer11
ENST00000652672.2:c.5118del ENSP00000498906.2:p.Glu1707AsnfsTer11
ENST00000484087.6:c.1821del ENSP00000419481.2:p.Glu608AsnfsTer11
ENST00000357654.9:c.5259del MANE Select ENSP00000350283.3:p.Glu1754AsnfsTer11
ENST00000471181.7:c.5322del ENSP00000418960.2:p.Glu1775AsnfsTer11
ENST00000644379.1:c.1646del
ENST00000352993.7:c.1833del ENSP00000312236.5:p.Glu612AsnfsTer11
ENST00000357654.7:c.5259del ENSP00000350283.3:p.Glu1754AsnfsTer11
ENST00000461221.5:c.*5042del ENSP00000418548.1:n.*5042del
ENST00000468300.5:c.1947del ENSP00000417148.1:p.Glu650AsnfsTer11
ENST00000471181.6:c.5322del ENSP00000418960.2:p.Glu1775AsnfsTer11
ENST00000491747.6:c.1947del ENSP00000420705.2:p.Glu650AsnfsTer11
ENST00000493795.5:c.5118del ENSP00000418775.1:p.Glu1707AsnfsTer11
ENST00000586385.5:c.189del ENSP00000465818.1:p.Glu64AsnfsTer11
ENST00000591534.5:c.732del ENSP00000467329.1:p.Glu245AsnfsTer11
ENST00000591849.5:c.-98-6880del ENSP00000465347.1:n.-98-6880del
NM_007294.3:c.5259del , LRG_292t1:c.5259del NP_009225.1:p.Glu1754AsnfsTer11
NM_007297.3:c.5118del NP_009228.2:p.Glu1707AsnfsTer11
NM_007298.3:c.1947del NP_009229.2:p.Glu650AsnfsTer11
NM_007299.3:c.1947del NP_009230.2:p.Glu650AsnfsTer11
NM_007300.3:c.5322del NP_009231.2:p.Glu1775AsnfsTer11
NR_027676.1:n.5395del
NM_007294.4:c.5259del MANE Select NP_009225.1:p.Glu1754AsnfsTer11
NM_007297.4:c.5118del NP_009228.2:p.Glu1707AsnfsTer11
NM_007299.4:c.1947del NP_009230.2:p.Glu650AsnfsTer11
NM_007300.4:c.5322del NP_009231.2:p.Glu1775AsnfsTer11
NR_027676.2:n.5436del