Canonical Allele Identifier: CA658684048

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 491108
• ClinVar RCV Id: RCV000583316
• dbSNP Id: rs1555575256
• MyVariant Identifiers: chr17:g.41201329_41201330del (hg19) ; chr17:g.43049312_43049313del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049317_43049318del , CM000679.2:g.43049317_43049318del	GRCh38
NC_000017.10:g.41201334_41201335del , CM000679.1:g.41201334_41201335del	GRCh37
NC_000017.9:g.38454860_38454861del	NCBI36
NG_005905.2:g.168671_168672del , LRG_292:g.168671_168672del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5330-119_5330-118del	ENSP00000417241.2:n.5330-119_5330-118del
ENST00000470026.6:c.5333-119_5333-118del	ENSP00000419274.2:n.5333-119_5333-118del
ENST00000473961.6:c.5207-119_5207-118del	ENSP00000420201.2:n.5207-119_5207-118del
ENST00000476777.6:c.5327-119_5327-118del	ENSP00000417554.2:n.5327-119_5327-118del
ENST00000477152.6:c.5255-119_5255-118del	ENSP00000419988.2:n.5255-119_5255-118del
ENST00000478531.6:c.2021-119_2021-118del	ENSP00000420412.2:n.2021-119_2021-118del
ENST00000489037.2:c.5255-119_5255-118del	ENSP00000420781.2:n.5255-119_5255-118del
ENST00000493919.6:c.1883-119_1883-118del	ENSP00000418819.2:n.1883-119_1883-118del
ENST00000494123.6:c.5333-119_5333-118del	ENSP00000419103.2:n.5333-119_5333-118del
ENST00000497488.2:c.4445-119_4445-118del	ENSP00000418986.2:n.4445-119_4445-118del
ENST00000618469.2:c.5333-119_5333-118del	ENSP00000478114.2:n.5333-119_5333-118del
ENST00000634433.2:c.5210-119_5210-118del	ENSP00000489431.2:n.5210-119_5210-118del
ENST00000644379.2:c.5399-119_5399-118del	ENSP00000496570.2:n.5399-119_5399-118del
ENST00000644555.2:c.1883-119_1883-118del	ENSP00000494614.2:n.1883-119_1883-118del
ENST00000652672.2:c.5192-119_5192-118del	ENSP00000498906.2:n.5192-119_5192-118del
ENST00000484087.6:c.1895-119_1895-118del	ENSP00000419481.2:n.1895-119_1895-118del
ENST00000700081.1:n.1097_1098del
ENST00000357654.9:c.5333-119_5333-118del MANE Select	ENSP00000350283.3:n.5333-119_5333-118del
ENST00000471181.7:c.5396-119_5396-118del	ENSP00000418960.2:n.5396-119_5396-118del
ENST00000644379.1:c.1720-119_1720-118del
ENST00000352993.7:c.1907-119_1907-118del	ENSP00000312236.5:n.1907-119_1907-118del
ENST00000357654.7:c.5333-119_5333-118del	ENSP00000350283.3:n.5333-119_5333-118del
ENST00000461221.5:c.*5116-119_*5116-118del	ENSP00000418548.1:n.*5116-119_*5116-118del
ENST00000468300.5:c.2021-1610_2021-1609del	ENSP00000417148.1:n.2021-1610_2021-1609del
ENST00000471181.6:c.5396-119_5396-118del	ENSP00000418960.2:n.5396-119_5396-118del
ENST00000491747.6:c.2021-119_2021-118del	ENSP00000420705.2:n.2021-119_2021-118del
ENST00000493795.5:c.5192-119_5192-118del	ENSP00000418775.1:n.5192-119_5192-118del
ENST00000586385.5:c.263-119_263-118del	ENSP00000465818.1:n.263-119_263-118del
ENST00000591534.5:c.806-119_806-118del	ENSP00000467329.1:n.806-119_806-118del
ENST00000591849.5:c.32-119_32-118del	ENSP00000465347.1:n.32-119_32-118del
NM_007294.3:c.5333-119_5333-118del , LRG_292t1:c.5333-119_5333-118del	NP_009225.1:n.5333-119_5333-118del
NM_007297.3:c.5192-119_5192-118del	NP_009228.2:n.5192-119_5192-118del
NM_007298.3:c.2021-119_2021-118del	NP_009229.2:n.2021-119_2021-118del
NM_007299.3:c.2021-1610_2021-1609del	NP_009230.2:n.2021-1610_2021-1609del
NM_007300.3:c.5396-119_5396-118del	NP_009231.2:n.5396-119_5396-118del
NR_027676.1:n.5469-119_5469-118del
NM_007294.4:c.5333-119_5333-118del MANE Select	NP_009225.1:n.5333-119_5333-118del
NM_007297.4:c.5192-119_5192-118del	NP_009228.2:n.5192-119_5192-118del
NM_007299.4:c.2021-1610_2021-1609del	NP_009230.2:n.2021-1610_2021-1609del
NM_007300.4:c.5396-119_5396-118del	NP_009231.2:n.5396-119_5396-118del
NR_027676.2:n.5510-119_5510-118del