Canonical Allele Identifier: CA919844102

Gene: BRCA1

Linked Data

• dbSNP Id: rs1567769247

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063888del , CM000679.2:g.43063888del	GRCh38
NC_000017.10:g.41215905del , CM000679.1:g.41215905del	GRCh37
NC_000017.9:g.38469431del	NCBI36
NG_005905.2:g.154096del , LRG_292:g.154096del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5135del	ENSP00000417241.2:p.Val1712GlufsTer7
ENST00000470026.6:c.5138del	ENSP00000419274.2:p.Val1713GlufsTer7
ENST00000473961.6:c.5012del	ENSP00000420201.2:p.Val1671GlufsTer7
ENST00000476777.6:c.5132del	ENSP00000417554.2:p.Val1711GlufsTer7
ENST00000477152.6:c.5060del	ENSP00000419988.2:p.Val1687GlufsTer7
ENST00000478531.6:c.1826del	ENSP00000420412.2:p.Val609GlufsTer7
ENST00000489037.2:c.5060del	ENSP00000420781.2:p.Val1687GlufsTer7
ENST00000493919.6:c.1688del	ENSP00000418819.2:p.Val563GlufsTer7
ENST00000494123.6:c.5138del	ENSP00000419103.2:p.Val1713GlufsTer7
ENST00000497488.2:c.4250del	ENSP00000418986.2:p.Val1417GlufsTer7
ENST00000618469.2:c.5138del	ENSP00000478114.2:p.Val1713GlufsTer7
ENST00000634433.2:c.5015del	ENSP00000489431.2:p.Val1672GlufsTer7
ENST00000644379.2:c.5204del	ENSP00000496570.2:p.Val1735GlufsTer7
ENST00000644555.2:c.1688del	ENSP00000494614.2:p.Val563GlufsTer7
ENST00000652672.2:c.4997del	ENSP00000498906.2:p.Val1666GlufsTer7
ENST00000484087.6:c.1700del	ENSP00000419481.2:p.Val567GlufsTer7
ENST00000357654.9:c.5138del MANE Select	ENSP00000350283.3:p.Val1713GlufsTer7
ENST00000471181.7:c.5201del	ENSP00000418960.2:p.Val1734GlufsTer7
ENST00000644379.1:c.1525del
ENST00000352993.7:c.1712del	ENSP00000312236.5:p.Val571GlufsTer7
ENST00000357654.7:c.5138del	ENSP00000350283.3:p.Val1713GlufsTer7
ENST00000461221.5:c.*4921del	ENSP00000418548.1:n.*4921del
ENST00000468300.5:c.1826del	ENSP00000417148.1:p.Val609GlufsTer7
ENST00000471181.6:c.5201del	ENSP00000418960.2:p.Val1734GlufsTer7
ENST00000478531.5:c.1826del	ENSP00000420412.1:p.Val609GlufsTer7
ENST00000484087.5:c.1451del	ENSP00000419481.1:p.Val484GlufsTer7
ENST00000491747.6:c.1826del	ENSP00000420705.2:p.Val609GlufsTer7
ENST00000493795.5:c.4997del	ENSP00000418775.1:p.Val1666GlufsTer7
ENST00000493919.5:c.1688del	ENSP00000418819.1:p.Val563GlufsTer7
ENST00000586385.5:c.68del	ENSP00000465818.1:p.Val23GlufsTer7
ENST00000591534.5:c.611del	ENSP00000467329.1:p.Val204GlufsTer7
ENST00000591849.5:c.-98-13698del	ENSP00000465347.1:n.-98-13698del
NM_007294.3:c.5138del , LRG_292t1:c.5138del	NP_009225.1:p.Val1713GlufsTer7
NM_007297.3:c.4997del	NP_009228.2:p.Val1666GlufsTer7
NM_007298.3:c.1826del	NP_009229.2:p.Val609GlufsTer7
NM_007299.3:c.1826del	NP_009230.2:p.Val609GlufsTer7
NM_007300.3:c.5201del	NP_009231.2:p.Val1734GlufsTer7
NR_027676.1:n.5274del
NM_007294.4:c.5138del MANE Select	NP_009225.1:p.Val1713GlufsTer7
NM_007297.4:c.4997del	NP_009228.2:p.Val1666GlufsTer7
NM_007299.4:c.1826del	NP_009230.2:p.Val609GlufsTer7
NM_007300.4:c.5201del	NP_009231.2:p.Val1734GlufsTer7
NR_027676.2:n.5315del