Canonical Allele Identifier: CA002773

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55171
• ClinVar RCV Id: RCV000112318
• dbSNP Id: rs80357825
• MyVariant Identifiers: chr17:g.41234440_41234447del (hg19) ; chr17:g.43082423_43082430del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082426_43082433del , CM000679.2:g.43082426_43082433del	GRCh38
NC_000017.10:g.41234443_41234450del , CM000679.1:g.41234443_41234450del	GRCh37
NC_000017.9:g.38487969_38487976del	NCBI36
NG_005905.2:g.135554_135561del , LRG_292:g.135554_135561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4331_4338del	ENSP00000417241.2:p.Asn1444ThrfsTer14
ENST00000470026.6:c.4331_4338del	ENSP00000419274.2:p.Asn1444ThrfsTer15
ENST00000473961.6:c.4205_4212del	ENSP00000420201.2:p.Asn1402ThrfsTer15
ENST00000476777.6:c.4325_4332del	ENSP00000417554.2:p.Asn1442ThrfsTer15
ENST00000477152.6:c.4253_4260del	ENSP00000419988.2:p.Asn1418ThrfsTer15
ENST00000478531.6:c.1019_1026del	ENSP00000420412.2:p.Asn340ThrfsTer15
ENST00000489037.2:c.4253_4260del	ENSP00000420781.2:p.Asn1418ThrfsTer15
ENST00000493919.6:c.881_888del	ENSP00000418819.2:p.Asn294ThrfsTer15
ENST00000494123.6:c.4331_4338del	ENSP00000419103.2:p.Asn1444ThrfsTer15
ENST00000497488.2:c.3443_3450del	ENSP00000418986.2:p.Asn1148ThrfsTer15
ENST00000618469.2:c.4331_4338del	ENSP00000478114.2:p.Asn1444ThrfsTer15
ENST00000634433.2:c.4208_4215del	ENSP00000489431.2:p.Asn1403ThrfsTer15
ENST00000644379.2:c.4331_4338del	ENSP00000496570.2:p.Asn1444ThrfsTer21
ENST00000644555.2:c.881_888del	ENSP00000494614.2:p.Asn294ThrfsTer15
ENST00000652672.2:c.4190_4197del	ENSP00000498906.2:p.Asn1397ThrfsTer15
ENST00000484087.6:c.896_903del	ENSP00000419481.2:p.Asn299ThrfsTer14
ENST00000700182.1:c.941_948del	ENSP00000514849.1:p.Asn314ThrfsTer14
ENST00000357654.9:c.4331_4338del MANE Select	ENSP00000350283.3:p.Asn1444ThrfsTer15
ENST00000471181.7:c.4331_4338del	ENSP00000418960.2:p.Asn1444ThrfsTer21
ENST00000644379.1:c.652_659del
ENST00000352993.7:c.905_912del	ENSP00000312236.5:p.Asn302ThrfsTer15
ENST00000357654.7:c.4331_4338del	ENSP00000350283.3:p.Asn1444ThrfsTer15
ENST00000461221.5:c.*4114_*4121del	ENSP00000418548.1:n.*4114_*4121del
ENST00000461574.1:c.625_632del
ENST00000468300.5:c.1022_1029del	ENSP00000417148.1:p.Asn341ThrfsTer14
ENST00000471181.6:c.4331_4338del	ENSP00000418960.2:p.Asn1444ThrfsTer21
ENST00000478531.5:c.1019_1026del	ENSP00000420412.1:p.Asn340ThrfsTer15
ENST00000484087.5:c.644_651del	ENSP00000419481.1:p.Asn215ThrfsTer15
ENST00000487825.5:c.647_654del	ENSP00000418212.1:p.Asn216ThrfsTer15
ENST00000491747.6:c.1022_1029del	ENSP00000420705.2:p.Asn341ThrfsTer14
ENST00000493795.5:c.4190_4197del	ENSP00000418775.1:p.Asn1397ThrfsTer15
ENST00000493919.5:c.881_888del	ENSP00000418819.1:p.Asn294ThrfsTer15
ENST00000586385.5:c.5-18479_5-18472del	ENSP00000465818.1:n.5-18479_5-18472del
ENST00000591534.5:c.-43-7909_-43-7902del	ENSP00000467329.1:n.-43-7909_-43-7902del
ENST00000591849.5:c.-98-32240_-98-32233del	ENSP00000465347.1:n.-98-32240_-98-32233del
ENST00000621897.1:n.225_232del
NM_007294.3:c.4331_4338del , LRG_292t1:c.4331_4338del	NP_009225.1:p.Asn1444ThrfsTer15
NM_007297.3:c.4190_4197del	NP_009228.2:p.Asn1397ThrfsTer15
NM_007298.3:c.1022_1029del	NP_009229.2:p.Asn341ThrfsTer14
NM_007299.3:c.1022_1029del	NP_009230.2:p.Asn341ThrfsTer14
NM_007300.3:c.4331_4338del	NP_009231.2:p.Asn1444ThrfsTer21
NR_027676.1:n.4467_4474del
NM_007294.4:c.4331_4338del MANE Select	NP_009225.1:p.Asn1444ThrfsTer15
NM_007297.4:c.4190_4197del	NP_009228.2:p.Asn1397ThrfsTer15
NM_007299.4:c.1022_1029del	NP_009230.2:p.Asn341ThrfsTer14
NM_007300.4:c.4331_4338del	NP_009231.2:p.Asn1444ThrfsTer21
NR_027676.2:n.4508_4515del