Canonical Allele Identifier: CA2638063554

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43076549-CAGCAGAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076552_43076558del , CM000679.2:g.43076552_43076558del	GRCh38
NC_000017.10:g.41228569_41228575del , CM000679.1:g.41228569_41228575del	GRCh37
NC_000017.9:g.38482095_38482101del	NCBI36
NG_005905.2:g.141428_141434del , LRG_292:g.141428_141434del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4413_4419del	ENSP00000417241.2:p.Ser1472ThrfsTer?
ENST00000470026.6:c.4416_4422del	ENSP00000419274.2:p.Ser1473ThrfsTer?
ENST00000473961.6:c.4290_4296del	ENSP00000420201.2:p.Ser1431ThrfsTer?
ENST00000476777.6:c.4410_4416del	ENSP00000417554.2:p.Ser1471ThrfsTer?
ENST00000477152.6:c.4338_4344del	ENSP00000419988.2:p.Ser1447ThrfsTer?
ENST00000478531.6:c.1104_1110del	ENSP00000420412.2:p.Ser369ThrfsTer?
ENST00000489037.2:c.4338_4344del	ENSP00000420781.2:p.Ser1447ThrfsTer?
ENST00000493919.6:c.966_972del	ENSP00000418819.2:p.Ser323ThrfsTer?
ENST00000494123.6:c.4416_4422del	ENSP00000419103.2:p.Ser1473ThrfsTer?
ENST00000497488.2:c.3528_3534del	ENSP00000418986.2:p.Ser1177ThrfsTer?
ENST00000618469.2:c.4416_4422del	ENSP00000478114.2:p.Ser1473ThrfsTer?
ENST00000634433.2:c.4293_4299del	ENSP00000489431.2:p.Ser1432ThrfsTer?
ENST00000644379.2:c.4482_4488del	ENSP00000496570.2:p.Ser1495ThrfsTer?
ENST00000644555.2:c.966_972del	ENSP00000494614.2:p.Ser323ThrfsTer?
ENST00000652672.2:c.4275_4281del	ENSP00000498906.2:p.Ser1426ThrfsTer?
ENST00000484087.6:c.978_984del	ENSP00000419481.2:p.Ser327ThrfsTer?
ENST00000700182.1:c.1023_1029del	ENSP00000514849.1:p.Ser342ThrfsTer?
ENST00000357654.9:c.4416_4422del MANE Select	ENSP00000350283.3:p.Ser1473ThrfsTer?
ENST00000471181.7:c.4479_4485del	ENSP00000418960.2:p.Ser1494ThrfsTer?
ENST00000644379.1:c.803_809del
ENST00000352993.7:c.990_996del	ENSP00000312236.5:p.Ser331ThrfsTer?
ENST00000357654.7:c.4416_4422del	ENSP00000350283.3:p.Ser1473ThrfsTer?
ENST00000461221.5:c.*4199_*4205del	ENSP00000418548.1:n.*4199_*4205del
ENST00000461574.1:c.707_713del
ENST00000468300.5:c.1104_1110del	ENSP00000417148.1:p.Ser369ThrfsTer?
ENST00000471181.6:c.4479_4485del	ENSP00000418960.2:p.Ser1494ThrfsTer?
ENST00000478531.5:c.1104_1110del	ENSP00000420412.1:p.Ser369ThrfsTer?
ENST00000484087.5:c.729_735del	ENSP00000419481.1:p.Ser244ThrfsTer?
ENST00000487825.5:c.732_738del	ENSP00000418212.1:p.Ser245ThrfsTer?
ENST00000491747.6:c.1104_1110del	ENSP00000420705.2:p.Ser369ThrfsTer?
ENST00000493795.5:c.4275_4281del	ENSP00000418775.1:p.Ser1426ThrfsTer?
ENST00000493919.5:c.966_972del	ENSP00000418819.1:p.Ser323ThrfsTer?
ENST00000586385.5:c.5-12605_5-12599del	ENSP00000465818.1:n.5-12605_5-12599del
ENST00000591534.5:c.-43-2035_-43-2029del	ENSP00000467329.1:n.-43-2035_-43-2029del
ENST00000591849.5:c.-98-26366_-98-26360del	ENSP00000465347.1:n.-98-26366_-98-26360del
ENST00000621897.1:n.307_313del
NM_007294.3:c.4416_4422del , LRG_292t1:c.4416_4422del	NP_009225.1:p.Ser1473ThrfsTer?
NM_007297.3:c.4275_4281del	NP_009228.2:p.Ser1426ThrfsTer?
NM_007298.3:c.1104_1110del	NP_009229.2:p.Ser369ThrfsTer?
NM_007299.3:c.1104_1110del	NP_009230.2:p.Ser369ThrfsTer?
NM_007300.3:c.4479_4485del	NP_009231.2:p.Ser1494ThrfsTer?
NR_027676.1:n.4552_4558del
NM_007294.4:c.4416_4422del MANE Select	NP_009225.1:p.Ser1473ThrfsTer?
NM_007297.4:c.4275_4281del	NP_009228.2:p.Ser1426ThrfsTer?
NM_007299.4:c.1104_1110del	NP_009230.2:p.Ser369ThrfsTer?
NM_007300.4:c.4479_4485del	NP_009231.2:p.Ser1494ThrfsTer?
NR_027676.2:n.4593_4599del