Canonical Allele Identifier: CA2638063603

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 3075793
• ClinVar RCV Id: RCV004018111
• gnomAD v4: 17-43076572-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076574del , CM000679.2:g.43076574del	GRCh38
NC_000017.10:g.41228591del , CM000679.1:g.41228591del	GRCh37
NC_000017.9:g.38482117del	NCBI36
NG_005905.2:g.141411del , LRG_292:g.141411del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4396del	ENSP00000417241.2:p.Gln1466ArgfsTer?
ENST00000470026.6:c.4399del	ENSP00000419274.2:p.Gln1467ArgfsTer?
ENST00000473961.6:c.4273del	ENSP00000420201.2:p.Gln1425ArgfsTer?
ENST00000476777.6:c.4393del	ENSP00000417554.2:p.Gln1465ArgfsTer?
ENST00000477152.6:c.4321del	ENSP00000419988.2:p.Gln1441ArgfsTer?
ENST00000478531.6:c.1087del	ENSP00000420412.2:p.Gln363ArgfsTer?
ENST00000489037.2:c.4321del	ENSP00000420781.2:p.Gln1441ArgfsTer?
ENST00000493919.6:c.949del	ENSP00000418819.2:p.Gln317ArgfsTer?
ENST00000494123.6:c.4399del	ENSP00000419103.2:p.Gln1467ArgfsTer?
ENST00000497488.2:c.3511del	ENSP00000418986.2:p.Gln1171ArgfsTer?
ENST00000618469.2:c.4399del	ENSP00000478114.2:p.Gln1467ArgfsTer?
ENST00000634433.2:c.4276del	ENSP00000489431.2:p.Gln1426ArgfsTer?
ENST00000644379.2:c.4465del	ENSP00000496570.2:p.Gln1489ArgfsTer?
ENST00000644555.2:c.949del	ENSP00000494614.2:p.Gln317ArgfsTer?
ENST00000652672.2:c.4258del	ENSP00000498906.2:p.Gln1420ArgfsTer?
ENST00000484087.6:c.961del	ENSP00000419481.2:p.Gln321ArgfsTer?
ENST00000700182.1:c.1006del	ENSP00000514849.1:p.Gln336ArgfsTer?
ENST00000357654.9:c.4399del MANE Select	ENSP00000350283.3:p.Gln1467ArgfsTer?
ENST00000471181.7:c.4462del	ENSP00000418960.2:p.Gln1488ArgfsTer?
ENST00000644379.1:c.786del
ENST00000352993.7:c.973del	ENSP00000312236.5:p.Gln325ArgfsTer?
ENST00000357654.7:c.4399del	ENSP00000350283.3:p.Gln1467ArgfsTer?
ENST00000461221.5:c.*4182del	ENSP00000418548.1:n.*4182del
ENST00000461574.1:c.690del
ENST00000468300.5:c.1087del	ENSP00000417148.1:p.Gln363ArgfsTer?
ENST00000471181.6:c.4462del	ENSP00000418960.2:p.Gln1488ArgfsTer?
ENST00000478531.5:c.1087del	ENSP00000420412.1:p.Gln363ArgfsTer?
ENST00000484087.5:c.712del	ENSP00000419481.1:p.Gln238ArgfsTer?
ENST00000487825.5:c.715del	ENSP00000418212.1:p.Gln239ArgfsTer?
ENST00000491747.6:c.1087del	ENSP00000420705.2:p.Gln363ArgfsTer?
ENST00000493795.5:c.4258del	ENSP00000418775.1:p.Gln1420ArgfsTer?
ENST00000493919.5:c.949del	ENSP00000418819.1:p.Gln317ArgfsTer?
ENST00000586385.5:c.5-12622del	ENSP00000465818.1:n.5-12622del
ENST00000591534.5:c.-43-2052del	ENSP00000467329.1:n.-43-2052del
ENST00000591849.5:c.-98-26383del	ENSP00000465347.1:n.-98-26383del
ENST00000621897.1:n.290del
NM_007294.3:c.4399del , LRG_292t1:c.4399del	NP_009225.1:p.Gln1467ArgfsTer?
NM_007297.3:c.4258del	NP_009228.2:p.Gln1420ArgfsTer?
NM_007298.3:c.1087del	NP_009229.2:p.Gln363ArgfsTer?
NM_007299.3:c.1087del	NP_009230.2:p.Gln363ArgfsTer?
NM_007300.3:c.4462del	NP_009231.2:p.Gln1488ArgfsTer?
NR_027676.1:n.4535del
NM_007294.4:c.4399del MANE Select	NP_009225.1:p.Gln1467ArgfsTer?
NM_007297.4:c.4258del	NP_009228.2:p.Gln1420ArgfsTer?
NM_007299.4:c.1087del	NP_009230.2:p.Gln363ArgfsTer?
NM_007300.4:c.4462del	NP_009231.2:p.Gln1488ArgfsTer?
NR_027676.2:n.4576del