Canonical Allele Identifier: CA002643
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55107
ClinVar RCV Id: RCV001190190
dbSNP Id: rs80357691
MyVariant Identifiers: chr17:g.41243023_41243024del (hg19) chr17:g.43091006_43091007del (hg38)
PubMed: PMID:10923033 PMID:22034289
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091007_43091008del , CM000679.2:g.43091007_43091008del GRCh38
NC_000017.10:g.41243024_41243025del , CM000679.1:g.41243024_41243025del GRCh37
NC_000017.9:g.38496550_38496551del NCBI36
NG_005905.2:g.126977_126978del , LRG_292:g.126977_126978del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4122_4123del ENSP00000417241.2:p.Ser1374ArgfsTer6
ENST00000470026.6:c.4122_4123del ENSP00000419274.2:p.Ser1374ArgfsTer6
ENST00000473961.6:c.3996_3997del ENSP00000420201.2:p.Ser1332ArgfsTer6
ENST00000476777.6:c.4119_4120del ENSP00000417554.2:p.Ser1373ArgfsTer6
ENST00000477152.6:c.4044_4045del ENSP00000419988.2:p.Ser1348ArgfsTer6
ENST00000478531.6:c.810_811del ENSP00000420412.2:p.Ser270ArgfsTer6
ENST00000489037.2:c.4044_4045del ENSP00000420781.2:p.Ser1348ArgfsTer6
ENST00000493919.6:c.672_673del ENSP00000418819.2:p.Ser224ArgfsTer6
ENST00000494123.6:c.4122_4123del ENSP00000419103.2:p.Ser1374ArgfsTer6
ENST00000497488.2:c.3234_3235del ENSP00000418986.2:p.Ser1078ArgfsTer6
ENST00000618469.2:c.4122_4123del ENSP00000478114.2:p.Ser1374ArgfsTer6
ENST00000634433.2:c.3999_4000del ENSP00000489431.2:p.Ser1333ArgfsTer6
ENST00000644379.2:c.4122_4123del ENSP00000496570.2:p.Ser1374ArgfsTer6
ENST00000644555.2:c.672_673del ENSP00000494614.2:p.Ser224ArgfsTer6
ENST00000652672.2:c.3981_3982del ENSP00000498906.2:p.Ser1327ArgfsTer6
ENST00000484087.6:c.690_691del ENSP00000419481.2:p.Ser230ArgfsTer6
ENST00000700182.1:c.732_733del ENSP00000514849.1:p.Ser244ArgfsTer6
ENST00000357654.9:c.4122_4123del MANE Select ENSP00000350283.3:p.Ser1374ArgfsTer6
ENST00000471181.7:c.4122_4123del ENSP00000418960.2:p.Ser1374ArgfsTer6
ENST00000644379.1:c.443_444del
ENST00000352993.7:c.696_697del ENSP00000312236.5:p.Ser232ArgfsTer6
ENST00000357654.7:c.4122_4123del ENSP00000350283.3:p.Ser1374ArgfsTer6
ENST00000461221.5:c.*3905_*3906del ENSP00000418548.1:n.*3905_*3906del
ENST00000461574.1:c.416_417del
ENST00000468300.5:c.813_814del ENSP00000417148.1:p.Ser271ArgfsTer6
ENST00000471181.6:c.4122_4123del ENSP00000418960.2:p.Ser1374ArgfsTer6
ENST00000478531.5:c.810_811del ENSP00000420412.1:p.Ser270ArgfsTer6
ENST00000484087.5:c.435_436del ENSP00000419481.1:p.Ser145ArgfsTer6
ENST00000487825.5:c.438_439del ENSP00000418212.1:p.Ser146ArgfsTer6
ENST00000491747.6:c.813_814del ENSP00000420705.2:p.Ser271ArgfsTer6
ENST00000493795.5:c.3981_3982del ENSP00000418775.1:p.Ser1327ArgfsTer6
ENST00000493919.5:c.672_673del ENSP00000418819.1:p.Ser224ArgfsTer6
ENST00000586385.5:c.5-27056_5-27055del ENSP00000465818.1:n.5-27056_5-27055del
ENST00000591534.5:c.-43-16486_-43-16485del ENSP00000467329.1:n.-43-16486_-43-16485de...
ENST00000591849.5:c.-99+34264_-99+34265del ENSP00000465347.1:n.-99+34264_-99+34265de...
NM_007294.3:c.4122_4123del , LRG_292t1:c.4122_4123del NP_009225.1:p.Ser1374ArgfsTer6
NM_007297.3:c.3981_3982del NP_009228.2:p.Ser1327ArgfsTer6
NM_007298.3:c.813_814del NP_009229.2:p.Ser271ArgfsTer6
NM_007299.3:c.813_814del NP_009230.2:p.Ser271ArgfsTer6
NM_007300.3:c.4122_4123del NP_009231.2:p.Ser1374ArgfsTer6
NR_027676.1:n.4258_4259del
NM_007294.4:c.4122_4123del MANE Select NP_009225.1:p.Ser1374ArgfsTer6
NM_007297.4:c.3981_3982del NP_009228.2:p.Ser1327ArgfsTer6
NM_007299.4:c.813_814del NP_009230.2:p.Ser271ArgfsTer6
NM_007300.4:c.4122_4123del NP_009231.2:p.Ser1374ArgfsTer6
NR_027676.2:n.4299_4300del
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