Canonical Allele Identifier: CA2499224393

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071052del , CM000679.2:g.43071052del	GRCh38
NC_000017.10:g.41223069del , CM000679.1:g.41223069del	GRCh37
NC_000017.9:g.38476595del	NCBI36
NG_005905.2:g.146932del , LRG_292:g.146932del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4859del	ENSP00000417241.2:p.Asp1620ValfsTer12
ENST00000470026.6:c.4862del	ENSP00000419274.2:p.Asp1621ValfsTer12
ENST00000473961.6:c.4736del	ENSP00000420201.2:p.Asp1579ValfsTer12
ENST00000476777.6:c.4856del	ENSP00000417554.2:p.Asp1619ValfsTer12
ENST00000477152.6:c.4784del	ENSP00000419988.2:p.Asp1595ValfsTer12
ENST00000478531.6:c.1550del	ENSP00000420412.2:p.Asp517ValfsTer12
ENST00000489037.2:c.4784del	ENSP00000420781.2:p.Asp1595ValfsTer12
ENST00000493919.6:c.1412del	ENSP00000418819.2:p.Asp471ValfsTer12
ENST00000494123.6:c.4862del	ENSP00000419103.2:p.Asp1621ValfsTer12
ENST00000497488.2:c.3974del	ENSP00000418986.2:p.Asp1325ValfsTer12
ENST00000618469.2:c.4862del	ENSP00000478114.2:p.Asp1621ValfsTer12
ENST00000634433.2:c.4739del	ENSP00000489431.2:p.Asp1580ValfsTer12
ENST00000644379.2:c.4928del	ENSP00000496570.2:p.Asp1643ValfsTer12
ENST00000644555.2:c.1412del	ENSP00000494614.2:p.Asp471ValfsTer12
ENST00000652672.2:c.4721del	ENSP00000498906.2:p.Asp1574ValfsTer12
ENST00000484087.6:c.1424del	ENSP00000419481.2:p.Asp475ValfsTer12
ENST00000700182.1:c.1469del	ENSP00000514849.1:p.Asp490ValfsTer12
ENST00000357654.9:c.4862del MANE Select	ENSP00000350283.3:p.Asp1621ValfsTer12
ENST00000471181.7:c.4925del	ENSP00000418960.2:p.Asp1642ValfsTer12
ENST00000644379.1:c.1249del
ENST00000352993.7:c.1436del	ENSP00000312236.5:p.Asp479ValfsTer12
ENST00000357654.7:c.4862del	ENSP00000350283.3:p.Asp1621ValfsTer12
ENST00000461221.5:c.*4645del	ENSP00000418548.1:n.*4645del
ENST00000468300.5:c.1550del	ENSP00000417148.1:p.Asp517ValfsTer12
ENST00000471181.6:c.4925del	ENSP00000418960.2:p.Asp1642ValfsTer12
ENST00000472490.1:n.15del
ENST00000478531.5:c.1550del	ENSP00000420412.1:p.Asp517ValfsTer12
ENST00000484087.5:c.1175del	ENSP00000419481.1:p.Asp392ValfsTer12
ENST00000491747.6:c.1550del	ENSP00000420705.2:p.Asp517ValfsTer12
ENST00000493795.5:c.4721del	ENSP00000418775.1:p.Asp1574ValfsTer12
ENST00000493919.5:c.1412del	ENSP00000418819.1:p.Asp471ValfsTer12
ENST00000586385.5:c.5-7101del	ENSP00000465818.1:n.5-7101del
ENST00000591534.5:c.335del	ENSP00000467329.1:p.Asp112ValfsTer12
ENST00000591849.5:c.-98-20862del	ENSP00000465347.1:n.-98-20862del
NM_007294.3:c.4862del , LRG_292t1:c.4862del	NP_009225.1:p.Asp1621ValfsTer12
NM_007297.3:c.4721del	NP_009228.2:p.Asp1574ValfsTer12
NM_007298.3:c.1550del	NP_009229.2:p.Asp517ValfsTer12
NM_007299.3:c.1550del	NP_009230.2:p.Asp517ValfsTer12
NM_007300.3:c.4925del	NP_009231.2:p.Asp1642ValfsTer12
NR_027676.1:n.4998del
NM_007294.4:c.4862del MANE Select	NP_009225.1:p.Asp1621ValfsTer12
NM_007297.4:c.4721del	NP_009228.2:p.Asp1574ValfsTer12
NM_007299.4:c.1550del	NP_009230.2:p.Asp517ValfsTer12
NM_007300.4:c.4925del	NP_009231.2:p.Asp1642ValfsTer12
NR_027676.2:n.5039del