Canonical Allele Identifier: CA2733916003

Gene: BRCA1

Linked Data

• dbSNP Id: rs2152471944

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045671_43045690del , CM000679.2:g.43045671_43045690del	GRCh38
NC_000017.10:g.41197688_41197707del , CM000679.1:g.41197688_41197707del	GRCh37
NC_000017.9:g.38451214_38451233del	NCBI36
NG_005905.2:g.172301_172320del , LRG_292:g.172301_172320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5584_*14del	ENSP00000417241.2:n.[c.5584_*14del;Tyr1862ArgfsTer10]
ENST00000470026.6:c.5587_*14del	ENSP00000419274.2:n.[c.5587_*14del;Tyr1863ArgfsTer10]
ENST00000473961.6:c.5461_*14del	ENSP00000420201.2:n.[c.5461_*14del;Tyr1821ArgfsTer10]
ENST00000476777.6:c.5581_*14del	ENSP00000417554.2:n.[c.5581_*14del;Tyr1861ArgfsTer10]
ENST00000477152.6:c.5509_*14del	ENSP00000419988.2:n.[c.5509_*14del;Tyr1837ArgfsTer10]
ENST00000478531.6:c.2275_*14del	ENSP00000420412.2:n.[c.2275_*14del;Tyr759ArgfsTer10]
ENST00000489037.2:c.5509_*14del	ENSP00000420781.2:n.[c.5509_*14del;Tyr1837ArgfsTer10]
ENST00000493919.6:c.2137_*14del	ENSP00000418819.2:n.[c.2137_*14del;Tyr713ArgfsTer10]
ENST00000494123.6:c.5587_*14del	ENSP00000419103.2:n.[c.5587_*14del;Tyr1863ArgfsTer10]
ENST00000497488.2:c.4699_*14del	ENSP00000418986.2:n.[c.4699_*14del;Tyr1567ArgfsTer10]
ENST00000618469.2:c.5587_*14del	ENSP00000478114.2:n.[c.5587_*14del;Tyr1863ArgfsTer10]
ENST00000634433.2:c.5464_*14del	ENSP00000489431.2:n.[c.5464_*14del;Tyr1822ArgfsTer10]
ENST00000644379.2:c.5653_*14del	ENSP00000496570.2:n.[c.5653_*14del;Tyr1885ArgfsTer10]
ENST00000644555.2:c.2137_*14del	ENSP00000494614.2:n.[c.2137_*14del;Tyr713ArgfsTer10]
ENST00000652672.2:c.5446_*14del	ENSP00000498906.2:n.[c.5446_*14del;Tyr1816ArgfsTer10]
ENST00000484087.6:c.2149_*14del	ENSP00000419481.2:n.[c.2149_*14del;Tyr717ArgfsTer10]
ENST00000700081.1:n.1470_1489del
ENST00000700082.1:n.951_970del
ENST00000357654.9:c.5587_*14del MANE Select	ENSP00000350283.3:n.[c.5587_*14del;Tyr1863ArgfsTer10]
ENST00000471181.7:c.5650_*14del	ENSP00000418960.2:n.[c.5650_*14del;Tyr1884ArgfsTer10]
ENST00000644379.1:c.1974_1993del
ENST00000352993.7:c.2161_*14del	ENSP00000312236.5:n.[c.2161_*14del;Tyr721ArgfsTer10]
ENST00000357654.7:c.5587_*14del	ENSP00000350283.3:n.[c.5587_*14del;Tyr1863ArgfsTer10]
ENST00000468300.5:c.*101_*120del	ENSP00000417148.1:n.*101_*120del
ENST00000471181.6:c.5650_*14del	ENSP00000418960.2:n.[c.5650_*14del;Tyr1884ArgfsTer10]
ENST00000493795.5:c.5446_*14del	ENSP00000418775.1:n.[c.5446_*14del;Tyr1816ArgfsTer10]
ENST00000586385.5:c.517_*14del	ENSP00000465818.1:n.[c.517_*14del;Tyr173ArgfsTer10]
ENST00000591534.5:c.1060_*14del	ENSP00000467329.1:n.[c.1060_*14del;Tyr354ArgfsTer10]
ENST00000591849.5:c.286_*14del	ENSP00000465347.1:n.[c.286_*14del;Tyr96ArgfsTer10]
NM_007294.3:c.5587_*14del , LRG_292t1:c.5587_*14del	NP_009225.1:n.[c.5587_*14del;Tyr1863ArgfsTer10]
NM_007297.3:c.5446_*14del	NP_009228.2:n.[c.5446_*14del;Tyr1816ArgfsTer10]
NM_007298.3:c.2275_*14del	NP_009229.2:n.[c.2275_*14del;Tyr759ArgfsTer10]
NM_007299.3:c.*101_*120del	NP_009230.2:n.*101_*120del
NM_007300.3:c.5650_*14del	NP_009231.2:n.[c.5650_*14del;Tyr1884ArgfsTer10]
NR_027676.1:n.5723_5742del
NM_007294.4:c.5587_*14del MANE Select	NP_009225.1:n.[c.5587_*14del;Tyr1863ArgfsTer10]
NM_007297.4:c.5446_*14del	NP_009228.2:n.[c.5446_*14del;Tyr1816ArgfsTer10]
NM_007299.4:c.*101_*120del	NP_009230.2:n.*101_*120del
NM_007300.4:c.5650_*14del	NP_009231.2:n.[c.5650_*14del;Tyr1884ArgfsTer10]
NR_027676.2:n.5764_5783del