Canonical Allele Identifier: CA10589727

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266402
• ClinVar RCV Id: RCV000257281
• dbSNP Id: rs886040162
• MyVariant Identifiers: chr17:g.41243805_41243817del (hg19) ; chr17:g.43091788_43091800del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091790_43091802del , CM000679.2:g.43091790_43091802del	GRCh38
NC_000017.10:g.41243807_41243819del , CM000679.1:g.41243807_41243819del	GRCh37
NC_000017.9:g.38497333_38497345del	NCBI36
NG_005905.2:g.126184_126196del , LRG_292:g.126184_126196del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3795_3807del
ENST00000461574.2:c.3731_3743del	ENSP00000417241.2:p.His1244LeufsTer16
ENST00000470026.6:c.3731_3743del	ENSP00000419274.2:p.His1244LeufsTer16
ENST00000473961.6:c.3605_3617del	ENSP00000420201.2:p.His1202LeufsTer16
ENST00000476777.6:c.3728_3740del	ENSP00000417554.2:p.His1243LeufsTer16
ENST00000477152.6:c.3653_3665del	ENSP00000419988.2:p.His1218LeufsTer16
ENST00000478531.6:c.785-768_785-756del	ENSP00000420412.2:n.785-768_785-756del
ENST00000489037.2:c.3653_3665del	ENSP00000420781.2:p.His1218LeufsTer16
ENST00000493919.6:c.647-768_647-756del	ENSP00000418819.2:n.647-768_647-756del
ENST00000494123.6:c.3731_3743del	ENSP00000419103.2:p.His1244LeufsTer16
ENST00000497488.2:c.2843_2855del	ENSP00000418986.2:p.His948LeufsTer16
ENST00000618469.2:c.3731_3743del	ENSP00000478114.2:p.His1244LeufsTer16
ENST00000634433.2:c.3608_3620del	ENSP00000489431.2:p.His1203LeufsTer16
ENST00000644379.2:c.3731_3743del	ENSP00000496570.2:p.His1244LeufsTer16
ENST00000644555.2:c.647-768_647-756del	ENSP00000494614.2:n.647-768_647-756del
ENST00000652672.2:c.3590_3602del	ENSP00000498906.2:p.His1197LeufsTer16
ENST00000484087.6:c.665-768_665-756del	ENSP00000419481.2:n.665-768_665-756del
ENST00000700182.1:c.707-768_707-756del	ENSP00000514849.1:n.707-768_707-756del
ENST00000357654.9:c.3731_3743del MANE Select	ENSP00000350283.3:p.His1244LeufsTer16
ENST00000471181.7:c.3731_3743del	ENSP00000418960.2:p.His1244LeufsTer16
ENST00000644379.1:c.52_64del
ENST00000352993.7:c.671-768_671-756del	ENSP00000312236.5:n.671-768_671-756del
ENST00000354071.7:c.3731_3743del	ENSP00000326002.7:p.His1244LeufsTer16
ENST00000357654.7:c.3731_3743del	ENSP00000350283.3:p.His1244LeufsTer16
ENST00000461221.5:c.*3514_*3526del	ENSP00000418548.1:n.*3514_*3526del
ENST00000461574.1:c.25_37del
ENST00000468300.5:c.788-768_788-756del	ENSP00000417148.1:n.788-768_788-756del
ENST00000471181.6:c.3731_3743del	ENSP00000418960.2:p.His1244LeufsTer16
ENST00000478531.5:c.785-768_785-756del	ENSP00000420412.1:n.785-768_785-756del
ENST00000484087.5:c.410-768_410-756del	ENSP00000419481.1:n.410-768_410-756del
ENST00000487825.5:c.413-768_413-756del	ENSP00000418212.1:n.413-768_413-756del
ENST00000491747.6:c.788-768_788-756del	ENSP00000420705.2:n.788-768_788-756del
ENST00000493795.5:c.3590_3602del	ENSP00000418775.1:p.His1197LeufsTer16
ENST00000493919.5:c.647-768_647-756del	ENSP00000418819.1:n.647-768_647-756del
ENST00000586385.5:c.5-27849_5-27837del	ENSP00000465818.1:n.5-27849_5-27837del
ENST00000591534.5:c.-43-17279_-43-17267del	ENSP00000467329.1:n.-43-17279_-43-17267de...
ENST00000591849.5:c.-99+33471_-99+33483del	ENSP00000465347.1:n.-99+33471_-99+33483de...
NM_007294.3:c.3731_3743del , LRG_292t1:c.3731_3743del	NP_009225.1:p.His1244LeufsTer16
NM_007297.3:c.3590_3602del	NP_009228.2:p.His1197LeufsTer16
NM_007298.3:c.788-768_788-756del	NP_009229.2:n.788-768_788-756del
NM_007299.3:c.788-768_788-756del	NP_009230.2:n.788-768_788-756del
NM_007300.3:c.3731_3743del	NP_009231.2:p.His1244LeufsTer16
NR_027676.1:n.3867_3879del
NM_007294.4:c.3731_3743del MANE Select	NP_009225.1:p.His1244LeufsTer16
NM_007297.4:c.3590_3602del	NP_009228.2:p.His1197LeufsTer16
NM_007299.4:c.788-768_788-756del	NP_009230.2:n.788-768_788-756del
NM_007300.4:c.3731_3743del	NP_009231.2:p.His1244LeufsTer16
NR_027676.2:n.3908_3920del