Canonical Allele Identifier: CA658798855

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 531256
• ClinVar RCV Id: RCV000637432
• dbSNP Id: rs1555592891
• MyVariant Identifiers: chr17:g.41246654_41246655del (hg19) ; chr17:g.43094637_43094638del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094637_43094638del , CM000679.2:g.43094637_43094638del	GRCh38
NC_000017.10:g.41246654_41246655del , CM000679.1:g.41246654_41246655del	GRCh37
NC_000017.9:g.38500180_38500181del	NCBI36
NG_005905.2:g.123346_123347del , LRG_292:g.123346_123347del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.957_958del
ENST00000461574.2:c.893_894del	ENSP00000417241.2:p.Asn298SerfsTer5
ENST00000470026.6:c.893_894del	ENSP00000419274.2:p.Asn298SerfsTer5
ENST00000473961.6:c.767_768del	ENSP00000420201.2:p.Asn256SerfsTer5
ENST00000476777.6:c.890_891del	ENSP00000417554.2:p.Asn297SerfsTer5
ENST00000477152.6:c.815_816del	ENSP00000419988.2:p.Asn272SerfsTer5
ENST00000478531.6:c.784+106_784+107del	ENSP00000420412.2:n.784+106_784+107del
ENST00000489037.2:c.815_816del	ENSP00000420781.2:p.Asn272SerfsTer5
ENST00000493919.6:c.646+106_646+107del	ENSP00000418819.2:n.646+106_646+107del
ENST00000494123.6:c.893_894del	ENSP00000419103.2:p.Asn298SerfsTer5
ENST00000497488.2:c.5_6del	ENSP00000418986.2:p.Asn2SerfsTer5
ENST00000618469.2:c.893_894del	ENSP00000478114.2:p.Asn298SerfsTer5
ENST00000634433.2:c.770_771del	ENSP00000489431.2:p.Asn257SerfsTer5
ENST00000644379.2:c.893_894del	ENSP00000496570.2:p.Asn298SerfsTer5
ENST00000644555.2:c.646+106_646+107del	ENSP00000494614.2:n.646+106_646+107del
ENST00000652672.2:c.752_753del	ENSP00000498906.2:p.Asn251SerfsTer5
ENST00000484087.6:c.664+106_664+107del	ENSP00000419481.2:n.664+106_664+107del
ENST00000700182.1:c.706+106_706+107del	ENSP00000514849.1:n.706+106_706+107del
ENST00000700183.1:c.*901_*902del	ENSP00000514850.1:n.*901_*902del
ENST00000357654.9:c.893_894del MANE Select	ENSP00000350283.3:p.Asn298SerfsTer5
ENST00000471181.7:c.893_894del	ENSP00000418960.2:p.Asn298SerfsTer5
ENST00000642945.1:c.*767_*768del	ENSP00000495897.1:n.*767_*768del
ENST00000652672.1:c.752_753del	ENSP00000498906.1:p.Asn251SerfsTer5
ENST00000352993.7:c.670+1208_670+1209del	ENSP00000312236.5:n.670+1208_670+1209del
ENST00000354071.7:c.893_894del	ENSP00000326002.7:p.Asn298SerfsTer5
ENST00000357654.7:c.893_894del	ENSP00000350283.3:p.Asn298SerfsTer5
ENST00000412061.3:c.244_245del
ENST00000461221.5:c.*676_*677del	ENSP00000418548.1:n.*676_*677del
ENST00000468300.5:c.787+106_787+107del	ENSP00000417148.1:n.787+106_787+107del
ENST00000470026.5:c.893_894del	ENSP00000419274.1:p.Asn298SerfsTer5
ENST00000471181.6:c.893_894del	ENSP00000418960.2:p.Asn298SerfsTer5
ENST00000473961.5:c.490_491del
ENST00000477152.5:c.815_816del	ENSP00000419988.1:p.Asn272SerfsTer5
ENST00000478531.5:c.784+106_784+107del	ENSP00000420412.1:n.784+106_784+107del
ENST00000484087.5:c.409+106_409+107del	ENSP00000419481.1:n.409+106_409+107del
ENST00000487825.5:c.412+106_412+107del	ENSP00000418212.1:n.412+106_412+107del
ENST00000491747.6:c.787+106_787+107del	ENSP00000420705.2:n.787+106_787+107del
ENST00000492859.5:c.*829_*830del	ENSP00000420253.1:n.*829_*830del
ENST00000493795.5:c.752_753del	ENSP00000418775.1:p.Asn251SerfsTer5
ENST00000493919.5:c.646+106_646+107del	ENSP00000418819.1:n.646+106_646+107del
ENST00000494123.5:c.893_894del	ENSP00000419103.1:p.Asn298SerfsTer5
ENST00000497488.1:c.5_6del	ENSP00000418986.1:p.Asn2SerfsTer5
ENST00000586385.5:c.4+30544_4+30545del	ENSP00000465818.1:n.4+30544_4+30545del
ENST00000591534.5:c.-43-20117_-43-20116del	ENSP00000467329.1:n.-43-20117_-43-20116del
ENST00000591849.5:c.-99+30633_-99+30634del	ENSP00000465347.1:n.-99+30633_-99+30634del
ENST00000634433.1:c.770_771del	ENSP00000489431.1:p.Asn257SerfsTer5
NM_007294.3:c.893_894del , LRG_292t1:c.893_894del	NP_009225.1:p.Asn298SerfsTer5
NM_007297.3:c.752_753del	NP_009228.2:p.Asn251SerfsTer5
NM_007298.3:c.787+106_787+107del	NP_009229.2:n.787+106_787+107del
NM_007299.3:c.787+106_787+107del	NP_009230.2:n.787+106_787+107del
NM_007300.3:c.893_894del	NP_009231.2:p.Asn298SerfsTer5
NR_027676.1:n.1029_1030del
NM_007294.4:c.893_894del MANE Select	NP_009225.1:p.Asn298SerfsTer5
NM_007297.4:c.752_753del	NP_009228.2:p.Asn251SerfsTer5
NM_007299.4:c.787+106_787+107del	NP_009230.2:n.787+106_787+107del
NM_007300.4:c.893_894del	NP_009231.2:p.Asn298SerfsTer5
NR_027676.2:n.1070_1071del