Canonical Allele Identifier: CA002422

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 182074
• ClinVar RCV Id: RCV000159844 ; RCV000221128 ; RCV000225507 ; RCV000508568
• dbSNP Id: rs730881440
• gnomAD v4: 17-43091762-CTG-C
• MyVariant Identifiers: chr17:g.41243780_41243781del (hg19) ; chr17:g.43091763_43091764del (hg38)
• PubMed: PMID:23982851 ; PMID:25136594 ; PMID:25248401 ; PMID:26187060 ; PMID:26315209 ; PMID:26745875

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091766_43091767del , CM000679.2:g.43091766_43091767del	GRCh38
NC_000017.10:g.41243783_41243784del , CM000679.1:g.41243783_41243784del	GRCh37
NC_000017.9:g.38497309_38497310del	NCBI36
NG_005905.2:g.126220_126221del , LRG_292:g.126220_126221del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3831_3832del
ENST00000461574.2:c.3767_3768del	ENSP00000417241.2:p.Thr1256ArgfsTer10
ENST00000470026.6:c.3767_3768del	ENSP00000419274.2:p.Thr1256ArgfsTer10
ENST00000473961.6:c.3641_3642del	ENSP00000420201.2:p.Thr1214ArgfsTer10
ENST00000476777.6:c.3764_3765del	ENSP00000417554.2:p.Thr1255ArgfsTer10
ENST00000477152.6:c.3689_3690del	ENSP00000419988.2:p.Thr1230ArgfsTer10
ENST00000478531.6:c.785-732_785-731del	ENSP00000420412.2:n.785-732_785-731del
ENST00000489037.2:c.3689_3690del	ENSP00000420781.2:p.Thr1230ArgfsTer10
ENST00000493919.6:c.647-732_647-731del	ENSP00000418819.2:n.647-732_647-731del
ENST00000494123.6:c.3767_3768del	ENSP00000419103.2:p.Thr1256ArgfsTer10
ENST00000497488.2:c.2879_2880del	ENSP00000418986.2:p.Thr960ArgfsTer10
ENST00000618469.2:c.3767_3768del	ENSP00000478114.2:p.Thr1256ArgfsTer10
ENST00000634433.2:c.3644_3645del	ENSP00000489431.2:p.Thr1215ArgfsTer10
ENST00000644379.2:c.3767_3768del	ENSP00000496570.2:p.Thr1256ArgfsTer10
ENST00000644555.2:c.647-732_647-731del	ENSP00000494614.2:n.647-732_647-731del
ENST00000652672.2:c.3626_3627del	ENSP00000498906.2:p.Thr1209ArgfsTer10
ENST00000484087.6:c.665-732_665-731del	ENSP00000419481.2:n.665-732_665-731del
ENST00000700182.1:c.707-732_707-731del	ENSP00000514849.1:n.707-732_707-731del
ENST00000357654.9:c.3767_3768del MANE Select	ENSP00000350283.3:p.Thr1256ArgfsTer10
ENST00000471181.7:c.3767_3768del	ENSP00000418960.2:p.Thr1256ArgfsTer10
ENST00000644379.1:c.88_89del
ENST00000352993.7:c.671-732_671-731del	ENSP00000312236.5:n.671-732_671-731del
ENST00000354071.7:c.3767_3768del	ENSP00000326002.7:p.Thr1256ArgfsTer10
ENST00000357654.7:c.3767_3768del	ENSP00000350283.3:p.Thr1256ArgfsTer10
ENST00000461221.5:c.*3550_*3551del	ENSP00000418548.1:n.*3550_*3551del
ENST00000461574.1:c.61_62del
ENST00000468300.5:c.788-732_788-731del	ENSP00000417148.1:n.788-732_788-731del
ENST00000471181.6:c.3767_3768del	ENSP00000418960.2:p.Thr1256ArgfsTer10
ENST00000478531.5:c.785-732_785-731del	ENSP00000420412.1:n.785-732_785-731del
ENST00000484087.5:c.410-732_410-731del	ENSP00000419481.1:n.410-732_410-731del
ENST00000487825.5:c.413-732_413-731del	ENSP00000418212.1:n.413-732_413-731del
ENST00000491747.6:c.788-732_788-731del	ENSP00000420705.2:n.788-732_788-731del
ENST00000493795.5:c.3626_3627del	ENSP00000418775.1:p.Thr1209ArgfsTer10
ENST00000493919.5:c.647-732_647-731del	ENSP00000418819.1:n.647-732_647-731del
ENST00000586385.5:c.5-27813_5-27812del	ENSP00000465818.1:n.5-27813_5-27812del
ENST00000591534.5:c.-43-17243_-43-17242del	ENSP00000467329.1:n.-43-17243_-43-17242de...
ENST00000591849.5:c.-99+33507_-99+33508del	ENSP00000465347.1:n.-99+33507_-99+33508de...
NM_007294.3:c.3767_3768del , LRG_292t1:c.3767_3768del	NP_009225.1:p.Thr1256ArgfsTer10
NM_007297.3:c.3626_3627del	NP_009228.2:p.Thr1209ArgfsTer10
NM_007298.3:c.788-732_788-731del	NP_009229.2:n.788-732_788-731del
NM_007299.3:c.788-732_788-731del	NP_009230.2:n.788-732_788-731del
NM_007300.3:c.3767_3768del	NP_009231.2:p.Thr1256ArgfsTer10
NR_027676.1:n.3903_3904del
NM_007294.4:c.3767_3768del MANE Select	NP_009225.1:p.Thr1256ArgfsTer10
NM_007297.4:c.3626_3627del	NP_009228.2:p.Thr1209ArgfsTer10
NM_007299.4:c.788-732_788-731del	NP_009230.2:n.788-732_788-731del
NM_007300.4:c.3767_3768del	NP_009231.2:p.Thr1256ArgfsTer10
NR_027676.2:n.3944_3945del