Canonical Allele Identifier: CA10588656

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 265362
• ClinVar RCV Id: RCV000255669 ; RCV000661092 ; RCV002521853
• dbSNP Id: rs886039501
• MyVariant Identifiers: chr17:g.41246669_41246700del (hg19) ; chr17:g.43094652_43094683del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094653_43094684del , CM000679.2:g.43094653_43094684del	GRCh38
NC_000017.10:g.41246670_41246701del , CM000679.1:g.41246670_41246701del	GRCh37
NC_000017.9:g.38500196_38500227del	NCBI36
NG_005905.2:g.123301_123332del , LRG_292:g.123301_123332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.912_943del
ENST00000461574.2:c.848_879del	ENSP00000417241.2:p.Leu283Ter
ENST00000470026.6:c.848_879del	ENSP00000419274.2:p.Leu283Ter
ENST00000473961.6:c.722_753del	ENSP00000420201.2:p.Leu241Ter
ENST00000476777.6:c.845_876del	ENSP00000417554.2:p.Leu282Ter
ENST00000477152.6:c.770_801del	ENSP00000419988.2:p.Leu257Ter
ENST00000478531.6:c.784+61_784+92del	ENSP00000420412.2:n.784+61_784+92del
ENST00000489037.2:c.770_801del	ENSP00000420781.2:p.Leu257Ter
ENST00000493919.6:c.646+61_646+92del	ENSP00000418819.2:n.646+61_646+92del
ENST00000494123.6:c.848_879del	ENSP00000419103.2:p.Leu283Ter
ENST00000497488.2:c.-41_-10del	ENSP00000418986.2:n.-41_-10del
ENST00000618469.2:c.848_879del	ENSP00000478114.2:p.Leu283Ter
ENST00000634433.2:c.725_756del	ENSP00000489431.2:p.Leu242Ter
ENST00000644379.2:c.848_879del	ENSP00000496570.2:p.Leu283Ter
ENST00000644555.2:c.646+61_646+92del	ENSP00000494614.2:n.646+61_646+92del
ENST00000652672.2:c.707_738del	ENSP00000498906.2:p.Leu236Ter
ENST00000484087.6:c.664+61_664+92del	ENSP00000419481.2:n.664+61_664+92del
ENST00000700182.1:c.706+61_706+92del	ENSP00000514849.1:n.706+61_706+92del
ENST00000700183.1:c.*856_*887del	ENSP00000514850.1:n.*856_*887del
ENST00000357654.9:c.848_879del MANE Select	ENSP00000350283.3:p.Leu283Ter
ENST00000471181.7:c.848_879del	ENSP00000418960.2:p.Leu283Ter
ENST00000642945.1:c.*722_*753del	ENSP00000495897.1:n.*722_*753del
ENST00000652672.1:c.707_738del	ENSP00000498906.1:p.Leu236Ter
ENST00000352993.7:c.670+1163_670+1194del	ENSP00000312236.5:n.670+1163_670+1194del
ENST00000354071.7:c.848_879del	ENSP00000326002.7:p.Leu283Ter
ENST00000357654.7:c.848_879del	ENSP00000350283.3:p.Leu283Ter
ENST00000412061.3:c.199_230del
ENST00000461221.5:c.*631_*662del	ENSP00000418548.1:n.*631_*662del
ENST00000468300.5:c.787+61_787+92del	ENSP00000417148.1:n.787+61_787+92del
ENST00000470026.5:c.848_879del	ENSP00000419274.1:p.Leu283Ter
ENST00000471181.6:c.848_879del	ENSP00000418960.2:p.Leu283Ter
ENST00000473961.5:c.445_476del
ENST00000477152.5:c.770_801del	ENSP00000419988.1:p.Leu257Ter
ENST00000478531.5:c.784+61_784+92del	ENSP00000420412.1:n.784+61_784+92del
ENST00000484087.5:c.409+61_409+92del	ENSP00000419481.1:n.409+61_409+92del
ENST00000487825.5:c.412+61_412+92del	ENSP00000418212.1:n.412+61_412+92del
ENST00000491747.6:c.787+61_787+92del	ENSP00000420705.2:n.787+61_787+92del
ENST00000492859.5:c.*784_*815del	ENSP00000420253.1:n.*784_*815del
ENST00000493795.5:c.707_738del	ENSP00000418775.1:p.Leu236Ter
ENST00000493919.5:c.646+61_646+92del	ENSP00000418819.1:n.646+61_646+92del
ENST00000494123.5:c.848_879del	ENSP00000419103.1:p.Leu283Ter
ENST00000497488.1:c.-41_-10del	ENSP00000418986.1:n.-41_-10del
ENST00000586385.5:c.4+30499_4+30530del	ENSP00000465818.1:n.4+30499_4+30530del
ENST00000591534.5:c.-43-20162_-43-20131del	ENSP00000467329.1:n.-43-20162_-43-20131del
ENST00000591849.5:c.-99+30588_-99+30619del	ENSP00000465347.1:n.-99+30588_-99+30619del
ENST00000634433.1:c.725_756del	ENSP00000489431.1:p.Leu242Ter
NM_007294.3:c.848_879del , LRG_292t1:c.848_879del	NP_009225.1:p.Leu283Ter
NM_007297.3:c.707_738del	NP_009228.2:p.Leu236Ter
NM_007298.3:c.787+61_787+92del	NP_009229.2:n.787+61_787+92del
NM_007299.3:c.787+61_787+92del	NP_009230.2:n.787+61_787+92del
NM_007300.3:c.848_879del	NP_009231.2:p.Leu283Ter
NR_027676.1:n.984_1015del
NM_007294.4:c.848_879del MANE Select	NP_009225.1:p.Leu283Ter
NM_007297.4:c.707_738del	NP_009228.2:p.Leu236Ter
NM_007299.4:c.787+61_787+92del	NP_009230.2:n.787+61_787+92del
NM_007300.4:c.848_879del	NP_009231.2:p.Leu283Ter
NR_027676.2:n.1025_1056del