Canonical Allele Identifier: CA003675

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045769del , CM000679.2:g.43045769del	GRCh38
NC_000017.10:g.41197786del , CM000679.1:g.41197786del	GRCh37
NC_000017.9:g.38451312del	NCBI36
NG_005905.2:g.172217del , LRG_292:g.172217del

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5503del MANE Select	NP_009225.1:p.Arg1835GlufsTer8
ENST00000357654.9:c.5503del MANE Select	ENSP00000350283.3:p.Arg1835GlufsTer8
NM_007294.3:c.5503del , LRG_292t1:c.5503del	NP_009225.1:p.Arg1835GlufsTer8
NM_007297.3:c.5362del	NP_009228.2:p.Arg1788GlufsTer8
NM_007297.4:c.5362del	NP_009228.2:p.Arg1788GlufsTer8
NM_007298.3:c.2191del	NP_009229.2:p.Arg731GlufsTer8
NM_007299.3:c.*17del	NP_009230.2:n.*17del
NM_007299.4:c.*17del	NP_009230.2:n.*17del
NM_007300.3:c.5566del	NP_009231.2:p.Arg1856GlufsTer8
NM_007300.4:c.5566del	NP_009231.2:p.Arg1856GlufsTer8
NR_027676.1:n.5639del
NR_027676.2:n.5680del
ENST00000352993.7:c.2077del	ENSP00000312236.5:p.Arg693GlufsTer8
ENST00000357654.7:c.5503del	ENSP00000350283.3:p.Arg1835GlufsTer8
ENST00000461221.5:c.*5286del	ENSP00000418548.1:n.*5286del
ENST00000461574.2:c.5500del	ENSP00000417241.2:p.Arg1834GlufsTer8
ENST00000468300.5:c.*17del	ENSP00000417148.1:n.*17del
ENST00000470026.6:c.5503del	ENSP00000419274.2:p.Arg1835GlufsTer8
ENST00000471181.6:c.5566del	ENSP00000418960.2:p.Arg1856GlufsTer8
ENST00000471181.7:c.5566del	ENSP00000418960.2:p.Arg1856GlufsTer8
ENST00000473961.6:c.5377del	ENSP00000420201.2:p.Arg1793GlufsTer8
ENST00000476777.6:c.5497del	ENSP00000417554.2:p.Arg1833GlufsTer8
ENST00000477152.6:c.5425del	ENSP00000419988.2:p.Arg1809GlufsTer8
ENST00000478531.6:c.2191del	ENSP00000420412.2:p.Arg731GlufsTer8
ENST00000484087.6:c.2065del	ENSP00000419481.2:p.Arg689GlufsTer8
ENST00000489037.2:c.5425del	ENSP00000420781.2:p.Arg1809GlufsTer8
ENST00000491747.6:c.2191del	ENSP00000420705.2:p.Arg731GlufsTer8
ENST00000493795.5:c.5362del	ENSP00000418775.1:p.Arg1788GlufsTer8
ENST00000493919.6:c.2053del	ENSP00000418819.2:p.Arg685GlufsTer8
ENST00000494123.6:c.5503del	ENSP00000419103.2:p.Arg1835GlufsTer8
ENST00000497488.2:c.4615del	ENSP00000418986.2:p.Arg1539GlufsTer8
ENST00000586385.5:c.433del	ENSP00000465818.1:p.Arg145GlufsTer8
ENST00000591534.5:c.976del	ENSP00000467329.1:p.Arg326GlufsTer8
ENST00000591849.5:c.202del	ENSP00000465347.1:p.Arg68GlufsTer8
ENST00000618469.2:c.5503del	ENSP00000478114.2:p.Arg1835GlufsTer8
ENST00000634433.2:c.5380del	ENSP00000489431.2:p.Arg1794GlufsTer8
ENST00000644379.1:c.1890del
ENST00000644379.2:c.5569del	ENSP00000496570.2:p.Arg1857GlufsTer8
ENST00000644555.2:c.2053del	ENSP00000494614.2:p.Arg685GlufsTer8
ENST00000652672.2:c.5362del	ENSP00000498906.2:p.Arg1788GlufsTer8
ENST00000700081.1:n.1386del
ENST00000700082.1:n.867del