Canonical Allele Identifier: CA10589612

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266528
• ClinVar RCV Id: RCV000257641
• dbSNP Id: rs886040274
• MyVariant Identifiers: chr17:g.41215378_41215382del (hg19) ; chr17:g.43063361_43063365del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063362_43063366del , CM000679.2:g.43063362_43063366del	GRCh38
NC_000017.10:g.41215379_41215383del , CM000679.1:g.41215379_41215383del	GRCh37
NC_000017.9:g.38468905_38468909del	NCBI36
NG_005905.2:g.154619_154623del , LRG_292:g.154619_154623del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5158_5162del	ENSP00000417241.2:p.Gln1720TyrfsTer2
ENST00000470026.6:c.5161_5165del	ENSP00000419274.2:p.Gln1721TyrfsTer2
ENST00000473961.6:c.5035_5039del	ENSP00000420201.2:p.Gln1679TyrfsTer2
ENST00000476777.6:c.5155_5159del	ENSP00000417554.2:p.Gln1719TyrfsTer2
ENST00000477152.6:c.5083_5087del	ENSP00000419988.2:p.Gln1695TyrfsTer2
ENST00000478531.6:c.1849_1853del	ENSP00000420412.2:p.Gln617TyrfsTer2
ENST00000489037.2:c.5083_5087del	ENSP00000420781.2:p.Gln1695TyrfsTer2
ENST00000493919.6:c.1711_1715del	ENSP00000418819.2:p.Gln571TyrfsTer2
ENST00000494123.6:c.5161_5165del	ENSP00000419103.2:p.Gln1721TyrfsTer2
ENST00000497488.2:c.4273_4277del	ENSP00000418986.2:p.Gln1425TyrfsTer2
ENST00000618469.2:c.5161_5165del	ENSP00000478114.2:p.Gln1721TyrfsTer2
ENST00000634433.2:c.5038_5042del	ENSP00000489431.2:p.Gln1680TyrfsTer2
ENST00000644379.2:c.5227_5231del	ENSP00000496570.2:p.Gln1743TyrfsTer2
ENST00000644555.2:c.1711_1715del	ENSP00000494614.2:p.Gln571TyrfsTer2
ENST00000652672.2:c.5020_5024del	ENSP00000498906.2:p.Gln1674TyrfsTer2
ENST00000484087.6:c.1723_1727del	ENSP00000419481.2:p.Gln575TyrfsTer2
ENST00000357654.9:c.5161_5165del MANE Select	ENSP00000350283.3:p.Gln1721TyrfsTer2
ENST00000471181.7:c.5224_5228del	ENSP00000418960.2:p.Gln1742TyrfsTer2
ENST00000644379.1:c.1548_1552del
ENST00000352993.7:c.1735_1739del	ENSP00000312236.5:p.Gln579TyrfsTer2
ENST00000357654.7:c.5161_5165del	ENSP00000350283.3:p.Gln1721TyrfsTer2
ENST00000461221.5:c.*4944_*4948del	ENSP00000418548.1:n.*4944_*4948del
ENST00000468300.5:c.1849_1853del	ENSP00000417148.1:p.Gln617TyrfsTer2
ENST00000471181.6:c.5224_5228del	ENSP00000418960.2:p.Gln1742TyrfsTer2
ENST00000478531.5:c.1849_1853del	ENSP00000420412.1:p.Gln617TyrfsTer2
ENST00000484087.5:c.1474_1478del	ENSP00000419481.1:p.Gln492TyrfsTer2
ENST00000491747.6:c.1849_1853del	ENSP00000420705.2:p.Gln617TyrfsTer2
ENST00000493795.5:c.5020_5024del	ENSP00000418775.1:p.Gln1674TyrfsTer2
ENST00000493919.5:c.1711_1715del	ENSP00000418819.1:p.Gln571=
ENST00000586385.5:c.91_95del	ENSP00000465818.1:p.Gln31TyrfsTer2
ENST00000591534.5:c.634_638del	ENSP00000467329.1:p.Gln212TyrfsTer2
ENST00000591849.5:c.-98-13175_-98-13171del	ENSP00000465347.1:n.-98-13175_-98-13171del
NM_007294.3:c.5161_5165del , LRG_292t1:c.5161_5165del	NP_009225.1:p.Gln1721TyrfsTer2
NM_007297.3:c.5020_5024del	NP_009228.2:p.Gln1674TyrfsTer2
NM_007298.3:c.1849_1853del	NP_009229.2:p.Gln617TyrfsTer2
NM_007299.3:c.1849_1853del	NP_009230.2:p.Gln617TyrfsTer2
NM_007300.3:c.5224_5228del	NP_009231.2:p.Gln1742TyrfsTer2
NR_027676.1:n.5297_5301del
NM_007294.4:c.5161_5165del MANE Select	NP_009225.1:p.Gln1721TyrfsTer2
NM_007297.4:c.5020_5024del	NP_009228.2:p.Gln1674TyrfsTer2
NM_007299.4:c.1849_1853del	NP_009230.2:p.Gln617TyrfsTer2
NM_007300.4:c.5224_5228del	NP_009231.2:p.Gln1742TyrfsTer2
NR_027676.2:n.5338_5342del