Canonical Allele Identifier: CA645373203

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 431204
• ClinVar RCV Id: RCV000496544 ; RCV000661200
• dbSNP Id: rs1135401839
• MyVariant Identifiers: chr17:g.41246615del (hg19) ; chr17:g.43094598del (hg38)
• PubMed: PMID:22752604

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094598del , CM000679.2:g.43094598del	GRCh38
NC_000017.10:g.41246615del , CM000679.1:g.41246615del	GRCh37
NC_000017.9:g.38500141del	NCBI36
NG_005905.2:g.123386del , LRG_292:g.123386del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.997del
ENST00000461574.2:c.933del	ENSP00000417241.2:p.Gly312AlafsTer2
ENST00000470026.6:c.933del	ENSP00000419274.2:p.Gly312AlafsTer2
ENST00000473961.6:c.807del	ENSP00000420201.2:p.Gly270AlafsTer2
ENST00000476777.6:c.930del	ENSP00000417554.2:p.Gly311AlafsTer2
ENST00000477152.6:c.855del	ENSP00000419988.2:p.Gly286AlafsTer2
ENST00000478531.6:c.784+146del	ENSP00000420412.2:n.784+146del
ENST00000489037.2:c.855del	ENSP00000420781.2:p.Gly286AlafsTer2
ENST00000493919.6:c.646+146del	ENSP00000418819.2:n.646+146del
ENST00000494123.6:c.933del	ENSP00000419103.2:p.Gly312AlafsTer2
ENST00000497488.2:c.45del	ENSP00000418986.2:p.Gly16AlafsTer2
ENST00000618469.2:c.933del	ENSP00000478114.2:p.Gly312AlafsTer2
ENST00000634433.2:c.810del	ENSP00000489431.2:p.Gly271AlafsTer2
ENST00000644379.2:c.933del	ENSP00000496570.2:p.Gly312AlafsTer2
ENST00000644555.2:c.646+146del	ENSP00000494614.2:n.646+146del
ENST00000652672.2:c.792del	ENSP00000498906.2:p.Gly265AlafsTer2
ENST00000484087.6:c.664+146del	ENSP00000419481.2:n.664+146del
ENST00000700182.1:c.706+146del	ENSP00000514849.1:n.706+146del
ENST00000700183.1:c.*941del	ENSP00000514850.1:n.*941del
ENST00000357654.9:c.933del MANE Select	ENSP00000350283.3:p.Gly312AlafsTer2
ENST00000471181.7:c.933del	ENSP00000418960.2:p.Gly312AlafsTer2
ENST00000642945.1:c.*807del	ENSP00000495897.1:n.*807del
ENST00000652672.1:c.792del	ENSP00000498906.1:p.Gly265AlafsTer2
ENST00000352993.7:c.670+1248del	ENSP00000312236.5:n.670+1248del
ENST00000354071.7:c.933del	ENSP00000326002.7:p.Gly312AlafsTer2
ENST00000357654.7:c.933del	ENSP00000350283.3:p.Gly312AlafsTer2
ENST00000412061.3:c.284del
ENST00000461221.5:c.*716del	ENSP00000418548.1:n.*716del
ENST00000468300.5:c.787+146del	ENSP00000417148.1:n.787+146del
ENST00000470026.5:c.933del	ENSP00000419274.1:p.Gly312AlafsTer2
ENST00000471181.6:c.933del	ENSP00000418960.2:p.Gly312AlafsTer2
ENST00000473961.5:c.530del
ENST00000477152.5:c.855del	ENSP00000419988.1:p.Gly286AlafsTer2
ENST00000478531.5:c.784+146del	ENSP00000420412.1:n.784+146del
ENST00000484087.5:c.409+146del	ENSP00000419481.1:n.409+146del
ENST00000487825.5:c.412+146del	ENSP00000418212.1:n.412+146del
ENST00000491747.6:c.787+146del	ENSP00000420705.2:n.787+146del
ENST00000492859.5:c.*869del	ENSP00000420253.1:n.*869del
ENST00000493795.5:c.792del	ENSP00000418775.1:p.Gly265AlafsTer2
ENST00000493919.5:c.646+146del	ENSP00000418819.1:n.646+146del
ENST00000494123.5:c.933del	ENSP00000419103.1:p.Gly312AlafsTer2
ENST00000497488.1:c.45del	ENSP00000418986.1:p.Gly16AlafsTer2
ENST00000586385.5:c.4+30584del	ENSP00000465818.1:n.4+30584del
ENST00000591534.5:c.-43-20077del	ENSP00000467329.1:n.-43-20077del
ENST00000591849.5:c.-99+30673del	ENSP00000465347.1:n.-99+30673del
ENST00000634433.1:c.810del	ENSP00000489431.1:p.Gly271AlafsTer2
NM_007294.3:c.933del , LRG_292t1:c.933del	NP_009225.1:p.Gly312AlafsTer2
NM_007297.3:c.792del	NP_009228.2:p.Gly265AlafsTer2
NM_007298.3:c.787+146del	NP_009229.2:n.787+146del
NM_007299.3:c.787+146del	NP_009230.2:n.787+146del
NM_007300.3:c.933del	NP_009231.2:p.Gly312AlafsTer2
NR_027676.1:n.1069del
NM_007294.4:c.933del MANE Select	NP_009225.1:p.Gly312AlafsTer2
NM_007297.4:c.792del	NP_009228.2:p.Gly265AlafsTer2
NM_007299.4:c.787+146del	NP_009230.2:n.787+146del
NM_007300.4:c.933del	NP_009231.2:p.Gly312AlafsTer2
NR_027676.2:n.1110del