Canonical Allele Identifier: CA915950055

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 824792
• ClinVar RCV Id: RCV001022291 ; RCV001380658 ; RCV003473595
• dbSNP Id: rs80357748

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082441del , CM000679.2:g.43082441del	GRCh38
NC_000017.10:g.41234458del , CM000679.1:g.41234458del	GRCh37
NC_000017.9:g.38487984del	NCBI36
NG_005905.2:g.135544del , LRG_292:g.135544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4321del	ENSP00000417241.2:p.Asp1441ThrfsTer14
ENST00000470026.6:c.4321del	ENSP00000419274.2:p.Asp1441ThrfsTer15
ENST00000473961.6:c.4195del	ENSP00000420201.2:p.Asp1399ThrfsTer15
ENST00000476777.6:c.4315del	ENSP00000417554.2:p.Asp1439ThrfsTer15
ENST00000477152.6:c.4243del	ENSP00000419988.2:p.Asp1415ThrfsTer15
ENST00000478531.6:c.1009del	ENSP00000420412.2:p.Asp337ThrfsTer15
ENST00000489037.2:c.4243del	ENSP00000420781.2:p.Asp1415ThrfsTer15
ENST00000493919.6:c.871del	ENSP00000418819.2:p.Asp291ThrfsTer15
ENST00000494123.6:c.4321del	ENSP00000419103.2:p.Asp1441ThrfsTer15
ENST00000497488.2:c.3433del	ENSP00000418986.2:p.Asp1145ThrfsTer15
ENST00000618469.2:c.4321del	ENSP00000478114.2:p.Asp1441ThrfsTer15
ENST00000634433.2:c.4198del	ENSP00000489431.2:p.Asp1400ThrfsTer15
ENST00000644379.2:c.4321del	ENSP00000496570.2:p.Asp1441ThrfsTer?
ENST00000644555.2:c.871del	ENSP00000494614.2:p.Asp291ThrfsTer15
ENST00000652672.2:c.4180del	ENSP00000498906.2:p.Asp1394ThrfsTer15
ENST00000484087.6:c.886del	ENSP00000419481.2:p.Asp296ThrfsTer14
ENST00000700182.1:c.931del	ENSP00000514849.1:p.Asp311ThrfsTer14
ENST00000357654.9:c.4321del MANE Select	ENSP00000350283.3:p.Asp1441ThrfsTer15
ENST00000471181.7:c.4321del	ENSP00000418960.2:p.Asp1441ThrfsTer?
ENST00000644379.1:c.642del
ENST00000352993.7:c.895del	ENSP00000312236.5:p.Asp299ThrfsTer15
ENST00000357654.7:c.4321del	ENSP00000350283.3:p.Asp1441ThrfsTer15
ENST00000461221.5:c.*4104del	ENSP00000418548.1:n.*4104del
ENST00000461574.1:c.615del
ENST00000468300.5:c.1012del	ENSP00000417148.1:p.Asp338ThrfsTer14
ENST00000471181.6:c.4321del	ENSP00000418960.2:p.Asp1441ThrfsTer?
ENST00000478531.5:c.1009del	ENSP00000420412.1:p.Asp337ThrfsTer15
ENST00000484087.5:c.634del	ENSP00000419481.1:p.Asp212ThrfsTer15
ENST00000487825.5:c.637del	ENSP00000418212.1:p.Asp213ThrfsTer15
ENST00000491747.6:c.1012del	ENSP00000420705.2:p.Asp338ThrfsTer14
ENST00000493795.5:c.4180del	ENSP00000418775.1:p.Asp1394ThrfsTer15
ENST00000493919.5:c.871del	ENSP00000418819.1:p.Asp291ThrfsTer15
ENST00000586385.5:c.5-18489del	ENSP00000465818.1:n.5-18489del
ENST00000591534.5:c.-43-7919del	ENSP00000467329.1:n.-43-7919del
ENST00000591849.5:c.-98-32250del	ENSP00000465347.1:n.-98-32250del
ENST00000621897.1:n.215del
NM_007294.3:c.4321del , LRG_292t1:c.4321del	NP_009225.1:p.Asp1441ThrfsTer15
NM_007297.3:c.4180del	NP_009228.2:p.Asp1394ThrfsTer15
NM_007298.3:c.1012del	NP_009229.2:p.Asp338ThrfsTer14
NM_007299.3:c.1012del	NP_009230.2:p.Asp338ThrfsTer14
NM_007300.3:c.4321del	NP_009231.2:p.Asp1441ThrfsTer?
NR_027676.1:n.4457del
NM_007294.4:c.4321del MANE Select	NP_009225.1:p.Asp1441ThrfsTer15
NM_007297.4:c.4180del	NP_009228.2:p.Asp1394ThrfsTer15
NM_007299.4:c.1012del	NP_009230.2:p.Asp338ThrfsTer14
NM_007300.4:c.4321del	NP_009231.2:p.Asp1441ThrfsTer?
NR_027676.2:n.4498del