Canonical Allele Identifier: CA2573153994

Gene: BRCA1

Linked Data

• dbSNP Id: rs2154361283

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092778_43092779insG , CM000679.2:g.43092778_43092779insG	GRCh38
NC_000017.10:g.41244795_41244796insG , CM000679.1:g.41244795_41244796insG	GRCh37
NC_000017.9:g.38498321_38498322insG	NCBI36
NG_005905.2:g.125205_125206insC , LRG_292:g.125205_125206insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2816_2817insC
ENST00000461574.2:c.2752_2753insC	ENSP00000417241.2:p.Lys918ThrfsTer7
ENST00000470026.6:c.2752_2753insC	ENSP00000419274.2:p.Lys918ThrfsTer7
ENST00000473961.6:c.2626_2627insC	ENSP00000420201.2:p.Lys876ThrfsTer7
ENST00000476777.6:c.2749_2750insC	ENSP00000417554.2:p.Lys917ThrfsTer7
ENST00000477152.6:c.2674_2675insC	ENSP00000419988.2:p.Lys892ThrfsTer7
ENST00000478531.6:c.785-1747_785-1746insC	ENSP00000420412.2:n.785-1747_785-1746insC
ENST00000489037.2:c.2674_2675insC	ENSP00000420781.2:p.Lys892ThrfsTer7
ENST00000493919.6:c.647-1747_647-1746insC	ENSP00000418819.2:n.647-1747_647-1746insC
ENST00000494123.6:c.2752_2753insC	ENSP00000419103.2:p.Lys918ThrfsTer7
ENST00000497488.2:c.1864_1865insC	ENSP00000418986.2:p.Lys622ThrfsTer7
ENST00000618469.2:c.2752_2753insC	ENSP00000478114.2:p.Lys918ThrfsTer7
ENST00000634433.2:c.2629_2630insC	ENSP00000489431.2:p.Lys877ThrfsTer7
ENST00000644379.2:c.2752_2753insC	ENSP00000496570.2:p.Lys918ThrfsTer7
ENST00000644555.2:c.647-1747_647-1746insC	ENSP00000494614.2:n.647-1747_647-1746insC
ENST00000652672.2:c.2611_2612insC	ENSP00000498906.2:p.Lys871ThrfsTer7
ENST00000484087.6:c.665-1747_665-1746insC	ENSP00000419481.2:n.665-1747_665-1746insC
ENST00000700182.1:c.707-1747_707-1746insC	ENSP00000514849.1:n.707-1747_707-1746insC
ENST00000357654.9:c.2752_2753insC MANE Select	ENSP00000350283.3:p.Lys918ThrfsTer7
ENST00000471181.7:c.2752_2753insC	ENSP00000418960.2:p.Lys918ThrfsTer7
ENST00000352993.7:c.671-1747_671-1746insC	ENSP00000312236.5:n.671-1747_671-1746insC
ENST00000354071.7:c.2752_2753insC	ENSP00000326002.7:p.Lys918ThrfsTer7
ENST00000357654.7:c.2752_2753insC	ENSP00000350283.3:p.Lys918ThrfsTer7
ENST00000461221.5:c.*2535_*2536insC	ENSP00000418548.1:n.*2535_*2536insC
ENST00000468300.5:c.788-1747_788-1746insC	ENSP00000417148.1:n.788-1747_788-1746insC
ENST00000471181.6:c.2752_2753insC	ENSP00000418960.2:p.Lys918ThrfsTer7
ENST00000478531.5:c.785-1747_785-1746insC	ENSP00000420412.1:n.785-1747_785-1746insC
ENST00000484087.5:c.410-1747_410-1746insC	ENSP00000419481.1:n.410-1747_410-1746insC
ENST00000487825.5:c.413-1747_413-1746insC	ENSP00000418212.1:n.413-1747_413-1746insC
ENST00000491747.6:c.788-1747_788-1746insC	ENSP00000420705.2:n.788-1747_788-1746insC
ENST00000493795.5:c.2611_2612insC	ENSP00000418775.1:p.Lys871ThrfsTer7
ENST00000493919.5:c.647-1747_647-1746insC	ENSP00000418819.1:n.647-1747_647-1746insC
ENST00000586385.5:c.5-28828_5-28827insC	ENSP00000465818.1:n.5-28828_5-28827insC
ENST00000591534.5:c.-43-18258_-43-18257insC	ENSP00000467329.1:n.-43-18258_-43-18257insC
ENST00000591849.5:c.-99+32492_-99+32493insC	ENSP00000465347.1:n.-99+32492_-99+32493insC
NM_007294.3:c.2752_2753insC , LRG_292t1:c.2752_2753insC	NP_009225.1:p.Lys918ThrfsTer7
NM_007297.3:c.2611_2612insC	NP_009228.2:p.Lys871ThrfsTer7
NM_007298.3:c.788-1747_788-1746insC	NP_009229.2:n.788-1747_788-1746insC
NM_007299.3:c.788-1747_788-1746insC	NP_009230.2:n.788-1747_788-1746insC
NM_007300.3:c.2752_2753insC	NP_009231.2:p.Lys918ThrfsTer7
NR_027676.1:n.2888_2889insC
NM_007294.4:c.2752_2753insC MANE Select	NP_009225.1:p.Lys918ThrfsTer7
NM_007297.4:c.2611_2612insC	NP_009228.2:p.Lys871ThrfsTer7
NM_007299.4:c.788-1747_788-1746insC	NP_009230.2:n.788-1747_788-1746insC
NM_007300.4:c.2752_2753insC	NP_009231.2:p.Lys918ThrfsTer7
NR_027676.2:n.2929_2930insC