Canonical Allele Identifier: CA2695226114

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057115del , CM000679.2:g.43057115del	GRCh38
NC_000017.10:g.41209132del , CM000679.1:g.41209132del	GRCh37
NC_000017.9:g.38462658del	NCBI36
NG_005905.2:g.160869del , LRG_292:g.160869del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5211del	ENSP00000417241.2:p.Asp1738MetfsTer26
ENST00000470026.6:c.5214del	ENSP00000419274.2:p.Asp1739MetfsTer26
ENST00000473961.6:c.5088del	ENSP00000420201.2:p.Asp1697MetfsTer26
ENST00000476777.6:c.5208del	ENSP00000417554.2:p.Asp1737MetfsTer26
ENST00000477152.6:c.5136del	ENSP00000419988.2:p.Asp1713MetfsTer26
ENST00000478531.6:c.1902del	ENSP00000420412.2:p.Asp635MetfsTer26
ENST00000489037.2:c.5136del	ENSP00000420781.2:p.Asp1713MetfsTer26
ENST00000493919.6:c.1764del	ENSP00000418819.2:p.Asp589MetfsTer26
ENST00000494123.6:c.5214del	ENSP00000419103.2:p.Asp1739MetfsTer26
ENST00000497488.2:c.4326del	ENSP00000418986.2:p.Asp1443MetfsTer26
ENST00000618469.2:c.5214del	ENSP00000478114.2:p.Asp1739MetfsTer26
ENST00000634433.2:c.5091del	ENSP00000489431.2:p.Asp1698MetfsTer26
ENST00000644379.2:c.5280del	ENSP00000496570.2:p.Asp1761MetfsTer26
ENST00000644555.2:c.1764del	ENSP00000494614.2:p.Asp589MetfsTer26
ENST00000652672.2:c.5073del	ENSP00000498906.2:p.Asp1692MetfsTer26
ENST00000484087.6:c.1776del	ENSP00000419481.2:p.Asp593MetfsTer26
ENST00000357654.9:c.5214del MANE Select	ENSP00000350283.3:p.Asp1739MetfsTer26
ENST00000471181.7:c.5277del	ENSP00000418960.2:p.Asp1760MetfsTer26
ENST00000644379.1:c.1601del
ENST00000352993.7:c.1788del	ENSP00000312236.5:p.Asp597MetfsTer26
ENST00000357654.7:c.5214del	ENSP00000350283.3:p.Asp1739MetfsTer26
ENST00000461221.5:c.*4997del	ENSP00000418548.1:n.*4997del
ENST00000468300.5:c.1902del	ENSP00000417148.1:p.Asp635MetfsTer26
ENST00000471181.6:c.5277del	ENSP00000418960.2:p.Asp1760MetfsTer26
ENST00000491747.6:c.1902del	ENSP00000420705.2:p.Asp635MetfsTer26
ENST00000493795.5:c.5073del	ENSP00000418775.1:p.Asp1692MetfsTer26
ENST00000586385.5:c.144del	ENSP00000465818.1:p.Asp49MetfsTer26
ENST00000591534.5:c.687del	ENSP00000467329.1:p.Asp230MetfsTer26
ENST00000591849.5:c.-98-6925del	ENSP00000465347.1:n.-98-6925del
NM_007294.3:c.5214del , LRG_292t1:c.5214del	NP_009225.1:p.Asp1739MetfsTer26
NM_007297.3:c.5073del	NP_009228.2:p.Asp1692MetfsTer26
NM_007298.3:c.1902del	NP_009229.2:p.Asp635MetfsTer26
NM_007299.3:c.1902del	NP_009230.2:p.Asp635MetfsTer26
NM_007300.3:c.5277del	NP_009231.2:p.Asp1760MetfsTer26
NR_027676.1:n.5350del
NM_007294.4:c.5214del MANE Select	NP_009225.1:p.Asp1739MetfsTer26
NM_007297.4:c.5073del	NP_009228.2:p.Asp1692MetfsTer26
NM_007299.4:c.1902del	NP_009230.2:p.Asp635MetfsTer26
NM_007300.4:c.5277del	NP_009231.2:p.Asp1760MetfsTer26
NR_027676.2:n.5391del