Canonical Allele Identifier: CA003447

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051110del , CM000679.2:g.43051110del	GRCh38
NC_000017.10:g.41203127del , CM000679.1:g.41203127del	GRCh37
NC_000017.9:g.38456653del	NCBI36
NG_005905.2:g.166878del , LRG_292:g.166878del

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5289del MANE Select	NP_009225.1:p.Leu1764Ter
ENST00000357654.9:c.5289del MANE Select	ENSP00000350283.3:p.Leu1764Ter
NM_007294.3:c.5289del , LRG_292t1:c.5289del	NP_009225.1:p.Leu1764Ter
NM_007297.3:c.5148del	NP_009228.2:p.Leu1717Ter
NM_007297.4:c.5148del	NP_009228.2:p.Leu1717Ter
NM_007298.3:c.1977del	NP_009229.2:p.Leu660Ter
NM_007299.3:c.1977del	NP_009230.2:p.Leu660Ter
NM_007299.4:c.1977del	NP_009230.2:p.Leu660Ter
NM_007300.3:c.5352del	NP_009231.2:p.Leu1785Ter
NM_007300.4:c.5352del	NP_009231.2:p.Leu1785Ter
NR_027676.1:n.5425del
NR_027676.2:n.5466del
ENST00000352993.7:c.1863del	ENSP00000312236.5:p.Leu622Ter
ENST00000357654.7:c.5289del	ENSP00000350283.3:p.Leu1764Ter
ENST00000461221.5:c.*5072del	ENSP00000418548.1:n.*5072del
ENST00000461574.2:c.5286del	ENSP00000417241.2:p.Leu1763Ter
ENST00000468300.5:c.1977del	ENSP00000417148.1:p.Leu660Ter
ENST00000470026.6:c.5289del	ENSP00000419274.2:p.Leu1764Ter
ENST00000471181.6:c.5352del	ENSP00000418960.2:p.Leu1785Ter
ENST00000471181.7:c.5352del	ENSP00000418960.2:p.Leu1785Ter
ENST00000473961.6:c.5163del	ENSP00000420201.2:p.Leu1722Ter
ENST00000476777.6:c.5283del	ENSP00000417554.2:p.Leu1762Ter
ENST00000477152.6:c.5211del	ENSP00000419988.2:p.Leu1738Ter
ENST00000478531.6:c.1977del	ENSP00000420412.2:p.Leu660Ter
ENST00000484087.6:c.1851del	ENSP00000419481.2:p.Leu618Ter
ENST00000489037.2:c.5211del	ENSP00000420781.2:p.Leu1738Ter
ENST00000491747.6:c.1977del	ENSP00000420705.2:p.Leu660Ter
ENST00000493795.5:c.5148del	ENSP00000418775.1:p.Leu1717Ter
ENST00000493919.6:c.1839del	ENSP00000418819.2:p.Leu614Ter
ENST00000494123.6:c.5289del	ENSP00000419103.2:p.Leu1764Ter
ENST00000497488.2:c.4401del	ENSP00000418986.2:p.Leu1468Ter
ENST00000586385.5:c.219del	ENSP00000465818.1:p.Leu74Ter
ENST00000591534.5:c.762del	ENSP00000467329.1:p.Leu255Ter
ENST00000591849.5:c.-98-916del	ENSP00000465347.1:n.-98-916del
ENST00000618469.2:c.5289del	ENSP00000478114.2:p.Leu1764Ter
ENST00000634433.2:c.5166del	ENSP00000489431.2:p.Leu1723Ter
ENST00000644379.1:c.1676del
ENST00000644379.2:c.5355del	ENSP00000496570.2:p.Leu1786Ter
ENST00000644555.2:c.1839del	ENSP00000494614.2:p.Leu614Ter
ENST00000652672.2:c.5148del	ENSP00000498906.2:p.Leu1717Ter