Canonical Allele Identifier: CA002544

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 142938
• ClinVar RCV Id: RCV000132419 ; RCV000241067
• dbSNP Id: rs587782834
• MyVariant Identifiers: chr17:g.41243578_41243579del (hg19) ; chr17:g.43091561_43091562del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091562_43091563del , CM000679.2:g.43091562_43091563del	GRCh38
NC_000017.10:g.41243579_41243580del , CM000679.1:g.41243579_41243580del	GRCh37
NC_000017.9:g.38497105_38497106del	NCBI36
NG_005905.2:g.126422_126423del , LRG_292:g.126422_126423del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4033_4034del
ENST00000461574.2:c.3969_3970del	ENSP00000417241.2:p.Gln1323HisfsTer6
ENST00000470026.6:c.3969_3970del	ENSP00000419274.2:p.Gln1323HisfsTer6
ENST00000473961.6:c.3843_3844del	ENSP00000420201.2:p.Gln1281HisfsTer6
ENST00000476777.6:c.3966_3967del	ENSP00000417554.2:p.Gln1322HisfsTer6
ENST00000477152.6:c.3891_3892del	ENSP00000419988.2:p.Gln1297HisfsTer6
ENST00000478531.6:c.785-530_785-529del	ENSP00000420412.2:n.785-530_785-529del
ENST00000489037.2:c.3891_3892del	ENSP00000420781.2:p.Gln1297HisfsTer6
ENST00000493919.6:c.647-530_647-529del	ENSP00000418819.2:n.647-530_647-529del
ENST00000494123.6:c.3969_3970del	ENSP00000419103.2:p.Gln1323HisfsTer6
ENST00000497488.2:c.3081_3082del	ENSP00000418986.2:p.Gln1027HisfsTer6
ENST00000618469.2:c.3969_3970del	ENSP00000478114.2:p.Gln1323HisfsTer6
ENST00000634433.2:c.3846_3847del	ENSP00000489431.2:p.Gln1282HisfsTer6
ENST00000644379.2:c.3969_3970del	ENSP00000496570.2:p.Gln1323HisfsTer6
ENST00000644555.2:c.647-530_647-529del	ENSP00000494614.2:n.647-530_647-529del
ENST00000652672.2:c.3828_3829del	ENSP00000498906.2:p.Gln1276HisfsTer6
ENST00000484087.6:c.665-530_665-529del	ENSP00000419481.2:n.665-530_665-529del
ENST00000700182.1:c.707-530_707-529del	ENSP00000514849.1:n.707-530_707-529del
ENST00000357654.9:c.3969_3970del MANE Select	ENSP00000350283.3:p.Gln1323HisfsTer6
ENST00000471181.7:c.3969_3970del	ENSP00000418960.2:p.Gln1323HisfsTer6
ENST00000644379.1:c.290_291del
ENST00000352993.7:c.671-530_671-529del	ENSP00000312236.5:n.671-530_671-529del
ENST00000354071.7:c.3969_3970del	ENSP00000326002.7:p.Gln1323HisfsTer6
ENST00000357654.7:c.3969_3970del	ENSP00000350283.3:p.Gln1323HisfsTer6
ENST00000461221.5:c.*3752_*3753del	ENSP00000418548.1:n.*3752_*3753del
ENST00000461574.1:c.263_264del
ENST00000468300.5:c.788-530_788-529del	ENSP00000417148.1:n.788-530_788-529del
ENST00000471181.6:c.3969_3970del	ENSP00000418960.2:p.Gln1323HisfsTer6
ENST00000478531.5:c.785-530_785-529del	ENSP00000420412.1:n.785-530_785-529del
ENST00000484087.5:c.410-530_410-529del	ENSP00000419481.1:n.410-530_410-529del
ENST00000487825.5:c.413-530_413-529del	ENSP00000418212.1:n.413-530_413-529del
ENST00000491747.6:c.788-530_788-529del	ENSP00000420705.2:n.788-530_788-529del
ENST00000493795.5:c.3828_3829del	ENSP00000418775.1:p.Gln1276HisfsTer6
ENST00000493919.5:c.647-530_647-529del	ENSP00000418819.1:n.647-530_647-529del
ENST00000586385.5:c.5-27611_5-27610del	ENSP00000465818.1:n.5-27611_5-27610del
ENST00000591534.5:c.-43-17041_-43-17040del	ENSP00000467329.1:n.-43-17041_-43-17040de...
ENST00000591849.5:c.-99+33709_-99+33710del	ENSP00000465347.1:n.-99+33709_-99+33710de...
NM_007294.3:c.3969_3970del , LRG_292t1:c.3969_3970del	NP_009225.1:p.Gln1323HisfsTer6
NM_007297.3:c.3828_3829del	NP_009228.2:p.Gln1276HisfsTer6
NM_007298.3:c.788-530_788-529del	NP_009229.2:n.788-530_788-529del
NM_007299.3:c.788-530_788-529del	NP_009230.2:n.788-530_788-529del
NM_007300.3:c.3969_3970del	NP_009231.2:p.Gln1323HisfsTer6
NR_027676.1:n.4105_4106del
NM_007294.4:c.3969_3970del MANE Select	NP_009225.1:p.Gln1323HisfsTer6
NM_007297.4:c.3828_3829del	NP_009228.2:p.Gln1276HisfsTer6
NM_007299.4:c.788-530_788-529del	NP_009230.2:n.788-530_788-529del
NM_007300.4:c.3969_3970del	NP_009231.2:p.Gln1323HisfsTer6
NR_027676.2:n.4146_4147del