Canonical Allele Identifier: CA002748

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125700
• ClinVar RCV Id: RCV000112307
• dbSNP Id: rs80357716
• MyVariant Identifiers: chr17:g.41234492_41234493insC (hg19) ; chr17:g.43082475_43082476insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082475_43082476insC , CM000679.2:g.43082475_43082476insC	GRCh38
NC_000017.10:g.41234492_41234493insC , CM000679.1:g.41234492_41234493insC	GRCh37
NC_000017.9:g.38488018_38488019insC	NCBI36
NG_005905.2:g.135508_135509insG , LRG_292:g.135508_135509insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4285_4286insG	ENSP00000417241.2:p.Tyr1429Ter
ENST00000470026.6:c.4285_4286insG	ENSP00000419274.2:p.Tyr1429Ter
ENST00000473961.6:c.4159_4160insG	ENSP00000420201.2:p.Tyr1387Ter
ENST00000476777.6:c.4279_4280insG	ENSP00000417554.2:p.Tyr1427Ter
ENST00000477152.6:c.4207_4208insG	ENSP00000419988.2:p.Tyr1403Ter
ENST00000478531.6:c.973_974insG	ENSP00000420412.2:p.Tyr325Ter
ENST00000489037.2:c.4207_4208insG	ENSP00000420781.2:p.Tyr1403Ter
ENST00000493919.6:c.835_836insG	ENSP00000418819.2:p.Tyr279Ter
ENST00000494123.6:c.4285_4286insG	ENSP00000419103.2:p.Tyr1429Ter
ENST00000497488.2:c.3397_3398insG	ENSP00000418986.2:p.Tyr1133Ter
ENST00000618469.2:c.4285_4286insG	ENSP00000478114.2:p.Tyr1429Ter
ENST00000634433.2:c.4162_4163insG	ENSP00000489431.2:p.Tyr1388Ter
ENST00000644379.2:c.4285_4286insG	ENSP00000496570.2:p.Tyr1429Ter
ENST00000644555.2:c.835_836insG	ENSP00000494614.2:p.Tyr279Ter
ENST00000652672.2:c.4144_4145insG	ENSP00000498906.2:p.Tyr1382Ter
ENST00000484087.6:c.850_851insG	ENSP00000419481.2:p.Tyr284Ter
ENST00000700182.1:c.895_896insG	ENSP00000514849.1:p.Tyr299Ter
ENST00000357654.9:c.4285_4286insG MANE Select	ENSP00000350283.3:p.Tyr1429Ter
ENST00000471181.7:c.4285_4286insG	ENSP00000418960.2:p.Tyr1429Ter
ENST00000644379.1:c.606_607insG
ENST00000352993.7:c.859_860insG	ENSP00000312236.5:p.Tyr287Ter
ENST00000357654.7:c.4285_4286insG	ENSP00000350283.3:p.Tyr1429Ter
ENST00000461221.5:c.*4068_*4069insG	ENSP00000418548.1:n.*4068_*4069insG
ENST00000461574.1:c.579_580insG
ENST00000468300.5:c.976_977insG	ENSP00000417148.1:p.Tyr326Ter
ENST00000471181.6:c.4285_4286insG	ENSP00000418960.2:p.Tyr1429Ter
ENST00000478531.5:c.973_974insG	ENSP00000420412.1:p.Tyr325Ter
ENST00000484087.5:c.598_599insG	ENSP00000419481.1:p.Tyr200Ter
ENST00000487825.5:c.601_602insG	ENSP00000418212.1:p.Tyr201Ter
ENST00000491747.6:c.976_977insG	ENSP00000420705.2:p.Tyr326Ter
ENST00000493795.5:c.4144_4145insG	ENSP00000418775.1:p.Tyr1382Ter
ENST00000493919.5:c.835_836insG	ENSP00000418819.1:p.Tyr279Ter
ENST00000586385.5:c.5-18525_5-18524insG	ENSP00000465818.1:n.5-18525_5-18524insG
ENST00000591534.5:c.-43-7955_-43-7954insG	ENSP00000467329.1:n.-43-7955_-43-7954insG
ENST00000591849.5:c.-98-32286_-98-32285insG	ENSP00000465347.1:n.-98-32286_-98-32285insG
ENST00000621897.1:n.179_180insG
NM_007294.3:c.4285_4286insG , LRG_292t1:c.4285_4286insG	NP_009225.1:p.Tyr1429Ter
NM_007297.3:c.4144_4145insG	NP_009228.2:p.Tyr1382Ter
NM_007298.3:c.976_977insG	NP_009229.2:p.Tyr326Ter
NM_007299.3:c.976_977insG	NP_009230.2:p.Tyr326Ter
NM_007300.3:c.4285_4286insG	NP_009231.2:p.Tyr1429Ter
NR_027676.1:n.4421_4422insG
NM_007294.4:c.4285_4286insG MANE Select	NP_009225.1:p.Tyr1429Ter
NM_007297.4:c.4144_4145insG	NP_009228.2:p.Tyr1382Ter
NM_007299.4:c.976_977insG	NP_009230.2:p.Tyr326Ter
NM_007300.4:c.4285_4286insG	NP_009231.2:p.Tyr1429Ter
NR_027676.2:n.4462_4463insG