Canonical Allele Identifier: CA1139770803

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067690del , CM000679.2:g.43067690del	GRCh38
NC_000017.10:g.41219707del , CM000679.1:g.41219707del	GRCh37
NC_000017.9:g.38473233del	NCBI36
NG_005905.2:g.150294del , LRG_292:g.150294del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4989del	ENSP00000417241.2:p.Val1664CysfsTer12
ENST00000470026.6:c.4992del	ENSP00000419274.2:p.Val1665CysfsTer12
ENST00000473961.6:c.4866del	ENSP00000420201.2:p.Val1623CysfsTer12
ENST00000476777.6:c.4986del	ENSP00000417554.2:p.Val1663CysfsTer12
ENST00000477152.6:c.4914del	ENSP00000419988.2:p.Val1639CysfsTer12
ENST00000478531.6:c.1680del	ENSP00000420412.2:p.Val561CysfsTer12
ENST00000489037.2:c.4914del	ENSP00000420781.2:p.Val1639CysfsTer12
ENST00000493919.6:c.1542del	ENSP00000418819.2:p.Val515CysfsTer12
ENST00000494123.6:c.4992del	ENSP00000419103.2:p.Val1665CysfsTer12
ENST00000497488.2:c.4104del	ENSP00000418986.2:p.Val1369CysfsTer12
ENST00000618469.2:c.4992del	ENSP00000478114.2:p.Val1665CysfsTer12
ENST00000634433.2:c.4869del	ENSP00000489431.2:p.Val1624CysfsTer12
ENST00000644379.2:c.5058del	ENSP00000496570.2:p.Val1687CysfsTer12
ENST00000644555.2:c.1542del	ENSP00000494614.2:p.Val515CysfsTer12
ENST00000652672.2:c.4851del	ENSP00000498906.2:p.Val1618CysfsTer12
ENST00000484087.6:c.1554del	ENSP00000419481.2:p.Val519CysfsTer12
ENST00000357654.9:c.4992del MANE Select	ENSP00000350283.3:p.Val1665CysfsTer12
ENST00000471181.7:c.5055del	ENSP00000418960.2:p.Val1686CysfsTer12
ENST00000644379.1:c.1379del
ENST00000352993.7:c.1566del	ENSP00000312236.5:p.Val523CysfsTer12
ENST00000357654.7:c.4992del	ENSP00000350283.3:p.Val1665CysfsTer12
ENST00000461221.5:c.*4775del	ENSP00000418548.1:n.*4775del
ENST00000468300.5:c.1680del	ENSP00000417148.1:p.Val561CysfsTer12
ENST00000471181.6:c.5055del	ENSP00000418960.2:p.Val1686CysfsTer12
ENST00000472490.1:n.145del
ENST00000478531.5:c.1680del	ENSP00000420412.1:p.Val561CysfsTer12
ENST00000484087.5:c.1305del	ENSP00000419481.1:p.Val436CysfsTer12
ENST00000491747.6:c.1680del	ENSP00000420705.2:p.Val561CysfsTer12
ENST00000493795.5:c.4851del	ENSP00000418775.1:p.Val1618CysfsTer12
ENST00000493919.5:c.1542del	ENSP00000418819.1:p.Val515CysfsTer12
ENST00000586385.5:c.5-3739del	ENSP00000465818.1:n.5-3739del
ENST00000591534.5:c.465del	ENSP00000467329.1:p.Val156CysfsTer12
ENST00000591849.5:c.-98-17500del	ENSP00000465347.1:n.-98-17500del
NM_007294.3:c.4992del , LRG_292t1:c.4992del	NP_009225.1:p.Val1665CysfsTer12
NM_007297.3:c.4851del	NP_009228.2:p.Val1618CysfsTer12
NM_007298.3:c.1680del	NP_009229.2:p.Val561CysfsTer12
NM_007299.3:c.1680del	NP_009230.2:p.Val561CysfsTer12
NM_007300.3:c.5055del	NP_009231.2:p.Val1686CysfsTer12
NR_027676.1:n.5128del
NM_007294.4:c.4992del MANE Select	NP_009225.1:p.Val1665CysfsTer12
NM_007297.4:c.4851del	NP_009228.2:p.Val1618CysfsTer12
NM_007299.4:c.1680del	NP_009230.2:p.Val561CysfsTer12
NM_007300.4:c.5055del	NP_009231.2:p.Val1686CysfsTer12
NR_027676.2:n.5169del