Canonical Allele Identifier: CA001943

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54739
• ClinVar RCV Id: RCV000256846 ; RCV000657208
• dbSNP Id: rs80357829
• MyVariant Identifiers: chr17:g.41244558del (hg19) ; chr17:g.43092541del (hg38)
• PubMed: PMID:22034289

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092545del , CM000679.2:g.43092545del	GRCh38
NC_000017.10:g.41244562del , CM000679.1:g.41244562del	GRCh37
NC_000017.9:g.38498088del	NCBI36
NG_005905.2:g.125443del , LRG_292:g.125443del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3054del
ENST00000461574.2:c.2990del	ENSP00000417241.2:p.Asn997IlefsTer3
ENST00000470026.6:c.2990del	ENSP00000419274.2:p.Asn997IlefsTer3
ENST00000473961.6:c.2864del	ENSP00000420201.2:p.Asn955IlefsTer3
ENST00000476777.6:c.2987del	ENSP00000417554.2:p.Asn996IlefsTer3
ENST00000477152.6:c.2912del	ENSP00000419988.2:p.Asn971IlefsTer3
ENST00000478531.6:c.785-1509del	ENSP00000420412.2:n.785-1509del
ENST00000489037.2:c.2912del	ENSP00000420781.2:p.Asn971IlefsTer3
ENST00000493919.6:c.647-1509del	ENSP00000418819.2:n.647-1509del
ENST00000494123.6:c.2990del	ENSP00000419103.2:p.Asn997IlefsTer3
ENST00000497488.2:c.2102del	ENSP00000418986.2:p.Asn701IlefsTer3
ENST00000618469.2:c.2990del	ENSP00000478114.2:p.Asn997IlefsTer3
ENST00000634433.2:c.2867del	ENSP00000489431.2:p.Asn956IlefsTer3
ENST00000644379.2:c.2990del	ENSP00000496570.2:p.Asn997IlefsTer3
ENST00000644555.2:c.647-1509del	ENSP00000494614.2:n.647-1509del
ENST00000652672.2:c.2849del	ENSP00000498906.2:p.Asn950IlefsTer3
ENST00000484087.6:c.665-1509del	ENSP00000419481.2:n.665-1509del
ENST00000700182.1:c.707-1509del	ENSP00000514849.1:n.707-1509del
ENST00000357654.9:c.2990del MANE Select	ENSP00000350283.3:p.Asn997IlefsTer3
ENST00000471181.7:c.2990del	ENSP00000418960.2:p.Asn997IlefsTer3
ENST00000352993.7:c.671-1509del	ENSP00000312236.5:n.671-1509del
ENST00000354071.7:c.2990del	ENSP00000326002.7:p.Asn997IlefsTer3
ENST00000357654.7:c.2990del	ENSP00000350283.3:p.Asn997IlefsTer3
ENST00000461221.5:c.*2773del	ENSP00000418548.1:n.*2773del
ENST00000468300.5:c.788-1509del	ENSP00000417148.1:n.788-1509del
ENST00000471181.6:c.2990del	ENSP00000418960.2:p.Asn997IlefsTer3
ENST00000478531.5:c.785-1509del	ENSP00000420412.1:n.785-1509del
ENST00000484087.5:c.410-1509del	ENSP00000419481.1:n.410-1509del
ENST00000487825.5:c.413-1509del	ENSP00000418212.1:n.413-1509del
ENST00000491747.6:c.788-1509del	ENSP00000420705.2:n.788-1509del
ENST00000493795.5:c.2849del	ENSP00000418775.1:p.Asn950IlefsTer3
ENST00000493919.5:c.647-1509del	ENSP00000418819.1:n.647-1509del
ENST00000586385.5:c.5-28590del	ENSP00000465818.1:n.5-28590del
ENST00000591534.5:c.-43-18020del	ENSP00000467329.1:n.-43-18020del
ENST00000591849.5:c.-99+32730del	ENSP00000465347.1:n.-99+32730del
NM_007294.3:c.2990del , LRG_292t1:c.2990del	NP_009225.1:p.Asn997IlefsTer3
NM_007297.3:c.2849del	NP_009228.2:p.Asn950IlefsTer3
NM_007298.3:c.788-1509del	NP_009229.2:n.788-1509del
NM_007299.3:c.788-1509del	NP_009230.2:n.788-1509del
NM_007300.3:c.2990del	NP_009231.2:p.Asn997IlefsTer3
NR_027676.1:n.3126del
NM_007294.4:c.2990del MANE Select	NP_009225.1:p.Asn997IlefsTer3
NM_007297.4:c.2849del	NP_009228.2:p.Asn950IlefsTer3
NM_007299.4:c.788-1509del	NP_009230.2:n.788-1509del
NM_007300.4:c.2990del	NP_009231.2:p.Asn997IlefsTer3
NR_027676.2:n.3167del