Canonical Allele Identifier: CA915950063

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 651892
• ClinVar RCV Id: RCV000807333
• dbSNP Id: rs1597848491

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082547dup , CM000679.2:g.43082547dup	GRCh38
NC_000017.10:g.41234564dup , CM000679.1:g.41234564dup	GRCh37
NC_000017.9:g.38488090dup	NCBI36
NG_005905.2:g.135437dup , LRG_292:g.135437dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4214dup	ENSP00000417241.2:p.Leu1407AlafsTer7
ENST00000470026.6:c.4214dup	ENSP00000419274.2:p.Leu1407AlafsTer7
ENST00000473961.6:c.4088dup	ENSP00000420201.2:p.Leu1365AlafsTer7
ENST00000476777.6:c.4208dup	ENSP00000417554.2:p.Leu1405AlafsTer7
ENST00000477152.6:c.4136dup	ENSP00000419988.2:p.Leu1381AlafsTer7
ENST00000478531.6:c.902dup	ENSP00000420412.2:p.Leu303AlafsTer7
ENST00000489037.2:c.4136dup	ENSP00000420781.2:p.Leu1381AlafsTer7
ENST00000493919.6:c.764dup	ENSP00000418819.2:p.Leu257AlafsTer7
ENST00000494123.6:c.4214dup	ENSP00000419103.2:p.Leu1407AlafsTer7
ENST00000497488.2:c.3326dup	ENSP00000418986.2:p.Leu1111AlafsTer7
ENST00000618469.2:c.4214dup	ENSP00000478114.2:p.Leu1407AlafsTer7
ENST00000634433.2:c.4091dup	ENSP00000489431.2:p.Leu1366AlafsTer7
ENST00000644379.2:c.4214dup	ENSP00000496570.2:p.Leu1407AlafsTer7
ENST00000644555.2:c.764dup	ENSP00000494614.2:p.Leu257AlafsTer7
ENST00000652672.2:c.4073dup	ENSP00000498906.2:p.Leu1360AlafsTer7
ENST00000484087.6:c.779dup	ENSP00000419481.2:p.Leu262AlafsTer7
ENST00000700182.1:c.824dup	ENSP00000514849.1:p.Leu277AlafsTer7
ENST00000357654.9:c.4214dup MANE Select	ENSP00000350283.3:p.Leu1407AlafsTer7
ENST00000471181.7:c.4214dup	ENSP00000418960.2:p.Leu1407AlafsTer7
ENST00000644379.1:c.535dup
ENST00000352993.7:c.788dup	ENSP00000312236.5:p.Leu265AlafsTer7
ENST00000357654.7:c.4214dup	ENSP00000350283.3:p.Leu1407AlafsTer7
ENST00000461221.5:c.*3997dup	ENSP00000418548.1:n.*3997dup
ENST00000461574.1:c.508dup
ENST00000468300.5:c.905dup	ENSP00000417148.1:p.Leu304AlafsTer7
ENST00000471181.6:c.4214dup	ENSP00000418960.2:p.Leu1407AlafsTer7
ENST00000478531.5:c.902dup	ENSP00000420412.1:p.Leu303AlafsTer7
ENST00000484087.5:c.527dup	ENSP00000419481.1:p.Leu178AlafsTer7
ENST00000487825.5:c.530dup	ENSP00000418212.1:p.Leu179AlafsTer7
ENST00000491747.6:c.905dup	ENSP00000420705.2:p.Leu304AlafsTer7
ENST00000493795.5:c.4073dup	ENSP00000418775.1:p.Leu1360AlafsTer7
ENST00000493919.5:c.764dup	ENSP00000418819.1:p.Leu257AlafsTer7
ENST00000586385.5:c.5-18596dup	ENSP00000465818.1:n.5-18596dup
ENST00000591534.5:c.-43-8026dup	ENSP00000467329.1:n.-43-8026dup
ENST00000591849.5:c.-98-32357dup	ENSP00000465347.1:n.-98-32357dup
ENST00000621897.1:n.108dup
NM_007294.3:c.4214dup , LRG_292t1:c.4214dup	NP_009225.1:p.Leu1407AlafsTer7
NM_007297.3:c.4073dup	NP_009228.2:p.Leu1360AlafsTer7
NM_007298.3:c.905dup	NP_009229.2:p.Leu304AlafsTer7
NM_007299.3:c.905dup	NP_009230.2:p.Leu304AlafsTer7
NM_007300.3:c.4214dup	NP_009231.2:p.Leu1407AlafsTer7
NR_027676.1:n.4350dup
NM_007294.4:c.4214dup MANE Select	NP_009225.1:p.Leu1407AlafsTer7
NM_007297.4:c.4073dup	NP_009228.2:p.Leu1360AlafsTer7
NM_007299.4:c.905dup	NP_009230.2:p.Leu304AlafsTer7
NM_007300.4:c.4214dup	NP_009231.2:p.Leu1407AlafsTer7
NR_027676.2:n.4391dup