Canonical Allele Identifier: CA002648
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 125681
ClinVar RCV Id: RCV000112267 RCV000131892 RCV000706372
dbSNP Id: rs80357921
MyVariant Identifiers: chr17:g.41243017_41243018del (hg19) chr17:g.43091000_43091001del (hg38)
PubMed: PMID:22762150
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091000_43091001del , CM000679.2:g.43091000_43091001del GRCh38
NC_000017.10:g.41243017_41243018del , CM000679.1:g.41243017_41243018del GRCh37
NC_000017.9:g.38496543_38496544del NCBI36
NG_005905.2:g.126983_126984del , LRG_292:g.126983_126984del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4128_4129del ENSP00000417241.2:p.Ser1377ArgfsTer3
ENST00000470026.6:c.4128_4129del ENSP00000419274.2:p.Ser1377ArgfsTer3
ENST00000473961.6:c.4002_4003del ENSP00000420201.2:p.Ser1335ArgfsTer3
ENST00000476777.6:c.4125_4126del ENSP00000417554.2:p.Ser1376ArgfsTer3
ENST00000477152.6:c.4050_4051del ENSP00000419988.2:p.Ser1351ArgfsTer3
ENST00000478531.6:c.816_817del ENSP00000420412.2:p.Ser273ArgfsTer3
ENST00000489037.2:c.4050_4051del ENSP00000420781.2:p.Ser1351ArgfsTer3
ENST00000493919.6:c.678_679del ENSP00000418819.2:p.Ser227ArgfsTer3
ENST00000494123.6:c.4128_4129del ENSP00000419103.2:p.Ser1377ArgfsTer3
ENST00000497488.2:c.3240_3241del ENSP00000418986.2:p.Ser1081ArgfsTer3
ENST00000618469.2:c.4128_4129del ENSP00000478114.2:p.Ser1377ArgfsTer3
ENST00000634433.2:c.4005_4006del ENSP00000489431.2:p.Ser1336ArgfsTer3
ENST00000644379.2:c.4128_4129del ENSP00000496570.2:p.Ser1377ArgfsTer3
ENST00000644555.2:c.678_679del ENSP00000494614.2:p.Ser227ArgfsTer3
ENST00000652672.2:c.3987_3988del ENSP00000498906.2:p.Ser1330ArgfsTer3
ENST00000484087.6:c.696_697del ENSP00000419481.2:p.Ser233ArgfsTer3
ENST00000700182.1:c.738_739del ENSP00000514849.1:p.Ser247ArgfsTer3
ENST00000357654.9:c.4128_4129del MANE Select ENSP00000350283.3:p.Ser1377ArgfsTer3
ENST00000471181.7:c.4128_4129del ENSP00000418960.2:p.Ser1377ArgfsTer3
ENST00000644379.1:c.449_450del
ENST00000352993.7:c.702_703del ENSP00000312236.5:p.Ser235ArgfsTer3
ENST00000357654.7:c.4128_4129del ENSP00000350283.3:p.Ser1377ArgfsTer3
ENST00000461221.5:c.*3911_*3912del ENSP00000418548.1:n.*3911_*3912del
ENST00000461574.1:c.422_423del
ENST00000468300.5:c.819_820del ENSP00000417148.1:p.Ser274ArgfsTer3
ENST00000471181.6:c.4128_4129del ENSP00000418960.2:p.Ser1377ArgfsTer3
ENST00000478531.5:c.816_817del ENSP00000420412.1:p.Ser273ArgfsTer3
ENST00000484087.5:c.441_442del ENSP00000419481.1:p.Ser148ArgfsTer3
ENST00000487825.5:c.444_445del ENSP00000418212.1:p.Ser149ArgfsTer3
ENST00000491747.6:c.819_820del ENSP00000420705.2:p.Ser274ArgfsTer3
ENST00000493795.5:c.3987_3988del ENSP00000418775.1:p.Ser1330ArgfsTer3
ENST00000493919.5:c.678_679del ENSP00000418819.1:p.Ser227ArgfsTer3
ENST00000586385.5:c.5-27050_5-27049del ENSP00000465818.1:n.5-27050_5-27049del
ENST00000591534.5:c.-43-16480_-43-16479del ENSP00000467329.1:n.-43-16480_-43-16479de...
ENST00000591849.5:c.-99+34270_-99+34271del ENSP00000465347.1:n.-99+34270_-99+34271de...
NM_007294.3:c.4128_4129del , LRG_292t1:c.4128_4129del NP_009225.1:p.Ser1377ArgfsTer3
NM_007297.3:c.3987_3988del NP_009228.2:p.Ser1330ArgfsTer3
NM_007298.3:c.819_820del NP_009229.2:p.Ser274ArgfsTer3
NM_007299.3:c.819_820del NP_009230.2:p.Ser274ArgfsTer3
NM_007300.3:c.4128_4129del NP_009231.2:p.Ser1377ArgfsTer3
NR_027676.1:n.4264_4265del
NM_007294.4:c.4128_4129del MANE Select NP_009225.1:p.Ser1377ArgfsTer3
NM_007297.4:c.3987_3988del NP_009228.2:p.Ser1330ArgfsTer3
NM_007299.4:c.819_820del NP_009230.2:p.Ser274ArgfsTer3
NM_007300.4:c.4128_4129del NP_009231.2:p.Ser1377ArgfsTer3
NR_027676.2:n.4305_4306del
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