Canonical Allele Identifier: CA001103

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37425
• ClinVar RCV Id: RCV000031006 ; RCV000047556 ; RCV000470654 ; RCV000486975 ; RCV000580485 ; RCV003389314
• dbSNP Id: rs80357600
• MyVariant Identifiers: chr17:g.41245874del (hg19) ; chr17:g.43093857del (hg38)
• PubMed: PMID:9145677 ; PMID:11773283 ; PMID:19340607 ; PMID:22044689 ; PMID:23479189 ; PMID:23683081

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093860del , CM000679.2:g.43093860del	GRCh38
NC_000017.10:g.41245877del , CM000679.1:g.41245877del	GRCh37
NC_000017.9:g.38499403del	NCBI36
NG_005905.2:g.124127del , LRG_292:g.124127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1738del
ENST00000461574.2:c.1674del	ENSP00000417241.2:p.Gly559ValfsTer13
ENST00000470026.6:c.1674del	ENSP00000419274.2:p.Gly559ValfsTer13
ENST00000473961.6:c.1548del	ENSP00000420201.2:p.Gly517ValfsTer13
ENST00000476777.6:c.1671del	ENSP00000417554.2:p.Gly558ValfsTer13
ENST00000477152.6:c.1596del	ENSP00000419988.2:p.Gly533ValfsTer13
ENST00000478531.6:c.784+887del	ENSP00000420412.2:n.784+887del
ENST00000489037.2:c.1596del	ENSP00000420781.2:p.Gly533ValfsTer13
ENST00000493919.6:c.646+887del	ENSP00000418819.2:n.646+887del
ENST00000494123.6:c.1674del	ENSP00000419103.2:p.Gly559ValfsTer13
ENST00000497488.2:c.786del	ENSP00000418986.2:p.Gly263ValfsTer13
ENST00000618469.2:c.1674del	ENSP00000478114.2:p.Gly559ValfsTer13
ENST00000634433.2:c.1551del	ENSP00000489431.2:p.Gly518ValfsTer13
ENST00000644379.2:c.1674del	ENSP00000496570.2:p.Gly559ValfsTer13
ENST00000644555.2:c.646+887del	ENSP00000494614.2:n.646+887del
ENST00000652672.2:c.1533del	ENSP00000498906.2:p.Gly512ValfsTer13
ENST00000484087.6:c.664+887del	ENSP00000419481.2:n.664+887del
ENST00000700182.1:c.706+887del	ENSP00000514849.1:n.706+887del
ENST00000357654.9:c.1674del MANE Select	ENSP00000350283.3:p.Gly559ValfsTer13
ENST00000471181.7:c.1674del	ENSP00000418960.2:p.Gly559ValfsTer13
ENST00000652672.1:c.1533del	ENSP00000498906.1:p.Gly512ValfsTer13
ENST00000352993.7:c.670+1989del	ENSP00000312236.5:n.670+1989del
ENST00000354071.7:c.1674del	ENSP00000326002.7:p.Gly559ValfsTer13
ENST00000357654.7:c.1674del	ENSP00000350283.3:p.Gly559ValfsTer13
ENST00000412061.3:c.1025del
ENST00000461221.5:c.*1457del	ENSP00000418548.1:n.*1457del
ENST00000468300.5:c.787+887del	ENSP00000417148.1:n.787+887del
ENST00000470026.5:c.1674del	ENSP00000419274.1:p.Gly559ValfsTer13
ENST00000471181.6:c.1674del	ENSP00000418960.2:p.Gly559ValfsTer13
ENST00000477152.5:c.1596del	ENSP00000419988.1:p.Gly533ValfsTer13
ENST00000478531.5:c.784+887del	ENSP00000420412.1:n.784+887del
ENST00000484087.5:c.409+887del	ENSP00000419481.1:n.409+887del
ENST00000487825.5:c.412+887del	ENSP00000418212.1:n.412+887del
ENST00000491747.6:c.787+887del	ENSP00000420705.2:n.787+887del
ENST00000493795.5:c.1533del	ENSP00000418775.1:p.Gly512ValfsTer13
ENST00000493919.5:c.646+887del	ENSP00000418819.1:n.646+887del
ENST00000586385.5:c.5-29906del	ENSP00000465818.1:n.5-29906del
ENST00000591534.5:c.-43-19336del	ENSP00000467329.1:n.-43-19336del
ENST00000591849.5:c.-99+31414del	ENSP00000465347.1:n.-99+31414del
ENST00000634433.1:c.1551del	ENSP00000489431.1:p.Gly518ValfsTer13
NM_007294.3:c.1674del , LRG_292t1:c.1674del	NP_009225.1:p.Gly559ValfsTer13
NM_007297.3:c.1533del	NP_009228.2:p.Gly512ValfsTer13
NM_007298.3:c.787+887del	NP_009229.2:n.787+887del
NM_007299.3:c.787+887del	NP_009230.2:n.787+887del
NM_007300.3:c.1674del	NP_009231.2:p.Gly559ValfsTer13
NR_027676.1:n.1810del
NM_007294.4:c.1674del MANE Select	NP_009225.1:p.Gly559ValfsTer13
NM_007297.4:c.1533del	NP_009228.2:p.Gly512ValfsTer13
NM_007299.4:c.787+887del	NP_009230.2:n.787+887del
NM_007300.4:c.1674del	NP_009231.2:p.Gly559ValfsTer13
NR_027676.2:n.1851del