Canonical Allele Identifier: CA001477

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37456
• ClinVar RCV Id: RCV000031037 ; RCV000047759 ; RCV000131875 ; RCV000236097
• dbSNP Id: rs80357654
• MyVariant Identifiers: chr17:g.41245337_41245338del (hg19) ; chr17:g.43093320_43093321del (hg38)
• PubMed: PMID:9667259

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093321_43093322del , CM000679.2:g.43093321_43093322del	GRCh38
NC_000017.10:g.41245338_41245339del , CM000679.1:g.41245338_41245339del	GRCh37
NC_000017.9:g.38498864_38498865del	NCBI36
NG_005905.2:g.124663_124664del , LRG_292:g.124663_124664del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2274_2275del
ENST00000461574.2:c.2210_2211del	ENSP00000417241.2:p.Thr737SerfsTer2
ENST00000470026.6:c.2210_2211del	ENSP00000419274.2:p.Thr737SerfsTer2
ENST00000473961.6:c.2084_2085del	ENSP00000420201.2:p.Thr695SerfsTer2
ENST00000476777.6:c.2207_2208del	ENSP00000417554.2:p.Thr736SerfsTer2
ENST00000477152.6:c.2132_2133del	ENSP00000419988.2:p.Thr711SerfsTer2
ENST00000478531.6:c.784+1423_784+1424del	ENSP00000420412.2:n.784+1423_784+1424del
ENST00000489037.2:c.2132_2133del	ENSP00000420781.2:p.Thr711SerfsTer2
ENST00000493919.6:c.646+1423_646+1424del	ENSP00000418819.2:n.646+1423_646+1424del
ENST00000494123.6:c.2210_2211del	ENSP00000419103.2:p.Thr737SerfsTer2
ENST00000497488.2:c.1322_1323del	ENSP00000418986.2:p.Thr441SerfsTer2
ENST00000618469.2:c.2210_2211del	ENSP00000478114.2:p.Thr737SerfsTer2
ENST00000634433.2:c.2087_2088del	ENSP00000489431.2:p.Thr696SerfsTer2
ENST00000644379.2:c.2210_2211del	ENSP00000496570.2:p.Thr737SerfsTer2
ENST00000644555.2:c.646+1423_646+1424del	ENSP00000494614.2:n.646+1423_646+1424del
ENST00000652672.2:c.2069_2070del	ENSP00000498906.2:p.Thr690SerfsTer2
ENST00000484087.6:c.664+1423_664+1424del	ENSP00000419481.2:n.664+1423_664+1424del
ENST00000700182.1:c.706+1423_706+1424del	ENSP00000514849.1:n.706+1423_706+1424del
ENST00000357654.9:c.2210_2211del MANE Select	ENSP00000350283.3:p.Thr737SerfsTer2
ENST00000471181.7:c.2210_2211del	ENSP00000418960.2:p.Thr737SerfsTer2
ENST00000352993.7:c.671-2289_671-2288del	ENSP00000312236.5:n.671-2289_671-2288del
ENST00000354071.7:c.2210_2211del	ENSP00000326002.7:p.Thr737SerfsTer2
ENST00000357654.7:c.2210_2211del	ENSP00000350283.3:p.Thr737SerfsTer2
ENST00000461221.5:c.*1993_*1994del	ENSP00000418548.1:n.*1993_*1994del
ENST00000468300.5:c.787+1423_787+1424del	ENSP00000417148.1:n.787+1423_787+1424del
ENST00000471181.6:c.2210_2211del	ENSP00000418960.2:p.Thr737SerfsTer2
ENST00000478531.5:c.784+1423_784+1424del	ENSP00000420412.1:n.784+1423_784+1424del
ENST00000484087.5:c.409+1423_409+1424del	ENSP00000419481.1:n.409+1423_409+1424del
ENST00000487825.5:c.412+1423_412+1424del	ENSP00000418212.1:n.412+1423_412+1424del
ENST00000491747.6:c.787+1423_787+1424del	ENSP00000420705.2:n.787+1423_787+1424del
ENST00000493795.5:c.2069_2070del	ENSP00000418775.1:p.Thr690SerfsTer2
ENST00000493919.5:c.646+1423_646+1424del	ENSP00000418819.1:n.646+1423_646+1424del
ENST00000586385.5:c.5-29370_5-29369del	ENSP00000465818.1:n.5-29370_5-29369del
ENST00000591534.5:c.-43-18800_-43-18799del	ENSP00000467329.1:n.-43-18800_-43-18799del
ENST00000591849.5:c.-99+31950_-99+31951del	ENSP00000465347.1:n.-99+31950_-99+31951del
ENST00000634433.1:c.2087_2088del	ENSP00000489431.1:p.Thr696SerfsTer2
NM_007294.3:c.2210_2211del , LRG_292t1:c.2210_2211del	NP_009225.1:p.Thr737SerfsTer2
NM_007297.3:c.2069_2070del	NP_009228.2:p.Thr690SerfsTer2
NM_007298.3:c.787+1423_787+1424del	NP_009229.2:n.787+1423_787+1424del
NM_007299.3:c.787+1423_787+1424del	NP_009230.2:n.787+1423_787+1424del
NM_007300.3:c.2210_2211del	NP_009231.2:p.Thr737SerfsTer2
NR_027676.1:n.2346_2347del
NM_007294.4:c.2210_2211del MANE Select	NP_009225.1:p.Thr737SerfsTer2
NM_007297.4:c.2069_2070del	NP_009228.2:p.Thr690SerfsTer2
NM_007299.4:c.787+1423_787+1424del	NP_009230.2:n.787+1423_787+1424del
NM_007300.4:c.2210_2211del	NP_009231.2:p.Thr737SerfsTer2
NR_027676.2:n.2387_2388del