Canonical Allele Identifier: CA002031

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54772
• ClinVar RCV Id: RCV000031089 ; RCV000048072 ; RCV000130035 ; RCV000496296 ; RCV000785406
• dbSNP Id: rs80357841
• MyVariant Identifiers: chr17:g.41244440dupA (hg19) ; chr17:g.41244439_41244440insA (hg19) ; chr17:g.43092423dupA (hg38) ; chr17:g.43092422_43092423insA (hg38)
• PubMed: PMID:11802209

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092427dup , CM000679.2:g.43092427dup	GRCh38
NC_000017.10:g.41244444dup , CM000679.1:g.41244444dup	GRCh37
NC_000017.9:g.38497970dup	NCBI36
NG_005905.2:g.125561dup , LRG_292:g.125561dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3172dup
ENST00000461574.2:c.3108dup	ENSP00000417241.2:p.Lys1037Ter
ENST00000470026.6:c.3108dup	ENSP00000419274.2:p.Lys1037Ter
ENST00000473961.6:c.2982dup	ENSP00000420201.2:p.Lys995Ter
ENST00000476777.6:c.3105dup	ENSP00000417554.2:p.Lys1036Ter
ENST00000477152.6:c.3030dup	ENSP00000419988.2:p.Lys1011Ter
ENST00000478531.6:c.785-1391dup	ENSP00000420412.2:n.785-1391dup
ENST00000489037.2:c.3030dup	ENSP00000420781.2:p.Lys1011Ter
ENST00000493919.6:c.647-1391dup	ENSP00000418819.2:n.647-1391dup
ENST00000494123.6:c.3108dup	ENSP00000419103.2:p.Lys1037Ter
ENST00000497488.2:c.2220dup	ENSP00000418986.2:p.Lys741Ter
ENST00000618469.2:c.3108dup	ENSP00000478114.2:p.Lys1037Ter
ENST00000634433.2:c.2985dup	ENSP00000489431.2:p.Lys996Ter
ENST00000644379.2:c.3108dup	ENSP00000496570.2:p.Lys1037Ter
ENST00000644555.2:c.647-1391dup	ENSP00000494614.2:n.647-1391dup
ENST00000652672.2:c.2967dup	ENSP00000498906.2:p.Lys990Ter
ENST00000484087.6:c.665-1391dup	ENSP00000419481.2:n.665-1391dup
ENST00000700182.1:c.707-1391dup	ENSP00000514849.1:n.707-1391dup
ENST00000357654.9:c.3108dup MANE Select	ENSP00000350283.3:p.Lys1037Ter
ENST00000471181.7:c.3108dup	ENSP00000418960.2:p.Lys1037Ter
ENST00000352993.7:c.671-1391dup	ENSP00000312236.5:n.671-1391dup
ENST00000354071.7:c.3108dup	ENSP00000326002.7:p.Lys1037Ter
ENST00000357654.7:c.3108dup	ENSP00000350283.3:p.Lys1037Ter
ENST00000461221.5:c.*2891dup	ENSP00000418548.1:n.*2891dup
ENST00000468300.5:c.788-1391dup	ENSP00000417148.1:n.788-1391dup
ENST00000471181.6:c.3108dup	ENSP00000418960.2:p.Lys1037Ter
ENST00000478531.5:c.785-1391dup	ENSP00000420412.1:n.785-1391dup
ENST00000484087.5:c.410-1391dup	ENSP00000419481.1:n.410-1391dup
ENST00000487825.5:c.413-1391dup	ENSP00000418212.1:n.413-1391dup
ENST00000491747.6:c.788-1391dup	ENSP00000420705.2:n.788-1391dup
ENST00000493795.5:c.2967dup	ENSP00000418775.1:p.Lys990Ter
ENST00000493919.5:c.647-1391dup	ENSP00000418819.1:n.647-1391dup
ENST00000586385.5:c.5-28472dup	ENSP00000465818.1:n.5-28472dup
ENST00000591534.5:c.-43-17902dup	ENSP00000467329.1:n.-43-17902dup
ENST00000591849.5:c.-99+32848dup	ENSP00000465347.1:n.-99+32848dup
NM_007294.3:c.3108dup , LRG_292t1:c.3108dup	NP_009225.1:p.Lys1037Ter
NM_007297.3:c.2967dup	NP_009228.2:p.Lys990Ter
NM_007298.3:c.788-1391dup	NP_009229.2:n.788-1391dup
NM_007299.3:c.788-1391dup	NP_009230.2:n.788-1391dup
NM_007300.3:c.3108dup	NP_009231.2:p.Lys1037Ter
NR_027676.1:n.3244dup
NM_007294.4:c.3108dup MANE Select	NP_009225.1:p.Lys1037Ter
NM_007297.4:c.2967dup	NP_009228.2:p.Lys990Ter
NM_007299.4:c.788-1391dup	NP_009230.2:n.788-1391dup
NM_007300.4:c.3108dup	NP_009231.2:p.Lys1037Ter
NR_027676.2:n.3285dup