Canonical Allele Identifier: CA2260770018

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43064893G= , CM000679.2:g.43064893G=	GRCh38
NC_000017.10:g.41216910G= , CM000679.1:g.41216910G=	GRCh37
NC_000017.9:g.38470436G=	NCBI36
NG_005905.2:g.153091C= , LRG_292:g.153091C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5072-942C=	ENSP00000417241.2:n.5072-942C=
ENST00000470026.6:c.5075-942C=	ENSP00000419274.2:n.5075-942C=
ENST00000473961.6:c.4949-942C=	ENSP00000420201.2:n.4949-942C=
ENST00000476777.6:c.5069-942C=	ENSP00000417554.2:n.5069-942C=
ENST00000477152.6:c.4997-942C=	ENSP00000419988.2:n.4997-942C=
ENST00000478531.6:c.1763-942C=	ENSP00000420412.2:n.1763-942C=
ENST00000489037.2:c.4997-942C=	ENSP00000420781.2:n.4997-942C=
ENST00000493919.6:c.1625-942C=	ENSP00000418819.2:n.1625-942C=
ENST00000494123.6:c.5075-942C=	ENSP00000419103.2:n.5075-942C=
ENST00000497488.2:c.4187-942C=	ENSP00000418986.2:n.4187-942C=
ENST00000618469.2:c.5075-942C=	ENSP00000478114.2:n.5075-942C=
ENST00000634433.2:c.4952-942C=	ENSP00000489431.2:n.4952-942C=
ENST00000644379.2:c.5141-942C=	ENSP00000496570.2:n.5141-942C=
ENST00000644555.2:c.1625-942C=	ENSP00000494614.2:n.1625-942C=
ENST00000652672.2:c.4934-942C=	ENSP00000498906.2:n.4934-942C=
ENST00000484087.6:c.1637-942C=	ENSP00000419481.2:n.1637-942C=
ENST00000357654.9:c.5075-942C= MANE Select	ENSP00000350283.3:n.5075-942C=
ENST00000471181.7:c.5138-942C=	ENSP00000418960.2:n.5138-942C=
ENST00000644379.1:c.1462-942C=
ENST00000352993.7:c.1649-942C=	ENSP00000312236.5:n.1649-942C=
ENST00000357654.7:c.5075-942C=	ENSP00000350283.3:n.5075-942C=
ENST00000461221.5:c.*4858-942C=	ENSP00000418548.1:n.*4858-942C=
ENST00000468300.5:c.1763-942C=	ENSP00000417148.1:n.1763-942C=
ENST00000471181.6:c.5138-942C=	ENSP00000418960.2:n.5138-942C=
ENST00000478531.5:c.1763-942C=	ENSP00000420412.1:n.1763-942C=
ENST00000484087.5:c.1388-942C=	ENSP00000419481.1:n.1388-942C=
ENST00000491747.6:c.1763-942C=	ENSP00000420705.2:n.1763-942C=
ENST00000493795.5:c.4934-942C=	ENSP00000418775.1:n.4934-942C=
ENST00000493919.5:c.1625-942C=	ENSP00000418819.1:n.1625-942C=
ENST00000586385.5:c.5-942C=	ENSP00000465818.1:n.5-942C=
ENST00000591534.5:c.548-942C=	ENSP00000467329.1:n.548-942C=
ENST00000591849.5:c.-98-14703C=	ENSP00000465347.1:n.-98-14703C=
NM_007294.3:c.5075-942C= , LRG_292t1:c.5075-942C=	NP_009225.1:n.5075-942C=
NM_007297.3:c.4934-942C=	NP_009228.2:n.4934-942C=
NM_007298.3:c.1763-942C=	NP_009229.2:n.1763-942C=
NM_007299.3:c.1763-942C=	NP_009230.2:n.1763-942C=
NM_007300.3:c.5138-942C=	NP_009231.2:n.5138-942C=
NR_027676.1:n.5211-942C=
NM_007294.4:c.5075-942C= MANE Select	NP_009225.1:n.5075-942C=
NM_007297.4:c.4934-942C=	NP_009228.2:n.4934-942C=
NM_007299.4:c.1763-942C=	NP_009230.2:n.1763-942C=
NM_007300.4:c.5138-942C=	NP_009231.2:n.5138-942C=
NR_027676.2:n.5252-942C=