Canonical Allele Identifier: CA001838

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37491
• ClinVar RCV Id: RCV000031072 ; RCV000047975 ; RCV000131908 ; RCV000480052 ; RCV002496474
• dbSNP Id: rs80357832
• MyVariant Identifiers: chr17:g.41244739_41244742del (hg19) ; chr17:g.43092722_43092725del (hg38)
• PubMed: PMID:9333265 ; PMID:9699640 ; PMID:16030099 ; PMID:16267036 ; PMID:22655046 ; PMID:25236687 ; PMID:25371446 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092723_43092726del , CM000679.2:g.43092723_43092726del	GRCh38
NC_000017.10:g.41244740_41244743del , CM000679.1:g.41244740_41244743del	GRCh37
NC_000017.9:g.38498266_38498269del	NCBI36
NG_005905.2:g.125259_125262del , LRG_292:g.125259_125262del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2870_2873del
ENST00000461574.2:c.2806_2809del	ENSP00000417241.2:p.Asp936SerfsTer?
ENST00000470026.6:c.2806_2809del	ENSP00000419274.2:p.Asp936SerfsTer?
ENST00000473961.6:c.2680_2683del	ENSP00000420201.2:p.Asp894SerfsTer?
ENST00000476777.6:c.2803_2806del	ENSP00000417554.2:p.Asp935SerfsTer?
ENST00000477152.6:c.2728_2731del	ENSP00000419988.2:p.Asp910SerfsTer?
ENST00000478531.6:c.785-1693_785-1690del	ENSP00000420412.2:n.785-1693_785-1690del
ENST00000489037.2:c.2728_2731del	ENSP00000420781.2:p.Asp910SerfsTer?
ENST00000493919.6:c.647-1693_647-1690del	ENSP00000418819.2:n.647-1693_647-1690del
ENST00000494123.6:c.2806_2809del	ENSP00000419103.2:p.Asp936SerfsTer?
ENST00000497488.2:c.1918_1921del	ENSP00000418986.2:p.Asp640SerfsTer?
ENST00000618469.2:c.2806_2809del	ENSP00000478114.2:p.Asp936SerfsTer?
ENST00000634433.2:c.2683_2686del	ENSP00000489431.2:p.Asp895SerfsTer?
ENST00000644379.2:c.2806_2809del	ENSP00000496570.2:p.Asp936SerfsTer?
ENST00000644555.2:c.647-1693_647-1690del	ENSP00000494614.2:n.647-1693_647-1690del
ENST00000652672.2:c.2665_2668del	ENSP00000498906.2:p.Asp889SerfsTer?
ENST00000484087.6:c.665-1693_665-1690del	ENSP00000419481.2:n.665-1693_665-1690del
ENST00000700182.1:c.707-1693_707-1690del	ENSP00000514849.1:n.707-1693_707-1690del
ENST00000357654.9:c.2806_2809del MANE Select	ENSP00000350283.3:p.Asp936SerfsTer?
ENST00000471181.7:c.2806_2809del	ENSP00000418960.2:p.Asp936SerfsTer?
ENST00000352993.7:c.671-1693_671-1690del	ENSP00000312236.5:n.671-1693_671-1690del
ENST00000354071.7:c.2806_2809del	ENSP00000326002.7:p.Asp936SerfsTer?
ENST00000357654.7:c.2806_2809del	ENSP00000350283.3:p.Asp936SerfsTer?
ENST00000461221.5:c.*2589_*2592del	ENSP00000418548.1:n.*2589_*2592del
ENST00000468300.5:c.788-1693_788-1690del	ENSP00000417148.1:n.788-1693_788-1690del
ENST00000471181.6:c.2806_2809del	ENSP00000418960.2:p.Asp936SerfsTer?
ENST00000478531.5:c.785-1693_785-1690del	ENSP00000420412.1:n.785-1693_785-1690del
ENST00000484087.5:c.410-1693_410-1690del	ENSP00000419481.1:n.410-1693_410-1690del
ENST00000487825.5:c.413-1693_413-1690del	ENSP00000418212.1:n.413-1693_413-1690del
ENST00000491747.6:c.788-1693_788-1690del	ENSP00000420705.2:n.788-1693_788-1690del
ENST00000493795.5:c.2665_2668del	ENSP00000418775.1:p.Asp889SerfsTer?
ENST00000493919.5:c.647-1693_647-1690del	ENSP00000418819.1:n.647-1693_647-1690del
ENST00000586385.5:c.5-28774_5-28771del	ENSP00000465818.1:n.5-28774_5-28771del
ENST00000591534.5:c.-43-18204_-43-18201del	ENSP00000467329.1:n.-43-18204_-43-18201del
ENST00000591849.5:c.-99+32546_-99+32549del	ENSP00000465347.1:n.-99+32546_-99+32549del
NM_007294.3:c.2806_2809del , LRG_292t1:c.2806_2809del	NP_009225.1:p.Asp936SerfsTer?
NM_007297.3:c.2665_2668del	NP_009228.2:p.Asp889SerfsTer?
NM_007298.3:c.788-1693_788-1690del	NP_009229.2:n.788-1693_788-1690del
NM_007299.3:c.788-1693_788-1690del	NP_009230.2:n.788-1693_788-1690del
NM_007300.3:c.2806_2809del	NP_009231.2:p.Asp936SerfsTer?
NR_027676.1:n.2942_2945del
NM_007294.4:c.2806_2809del MANE Select	NP_009225.1:p.Asp936SerfsTer?
NM_007297.4:c.2665_2668del	NP_009228.2:p.Asp889SerfsTer?
NM_007299.4:c.788-1693_788-1690del	NP_009230.2:n.788-1693_788-1690del
NM_007300.4:c.2806_2809del	NP_009231.2:p.Asp936SerfsTer?
NR_027676.2:n.2983_2986del