Canonical Allele Identifier: CA002907
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55229
ClinVar RCV Id: RCV001271025 RCV003982869
dbSNP Id: rs80357813
gnomAD v4: 17-43074430-CTT-C
MyVariant Identifiers: chr17:g.41226448_41226449del (hg19) chr17:g.43074431_43074432del (hg38)
PubMed: PMID:9523200 PMID:11183185 PMID:19329713 PMID:20700108 PMID:22333603 PMID:24728189
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43074431_43074432del , CM000679.2:g.43074431_43074432del GRCh38
NC_000017.10:g.41226448_41226449del , CM000679.1:g.41226448_41226449del GRCh37
NC_000017.9:g.38479974_38479975del NCBI36
NG_005905.2:g.143552_143553del , LRG_292:g.143552_143553del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4571_4572del ENSP00000417241.2:p.Gln1524ArgfsTer5
ENST00000470026.6:c.4574_4575del ENSP00000419274.2:p.Gln1525ArgfsTer5
ENST00000473961.6:c.4448_4449del ENSP00000420201.2:p.Gln1483ArgfsTer5
ENST00000476777.6:c.4568_4569del ENSP00000417554.2:p.Gln1523ArgfsTer5
ENST00000477152.6:c.4496_4497del ENSP00000419988.2:p.Gln1499ArgfsTer5
ENST00000478531.6:c.1262_1263del ENSP00000420412.2:p.Gln421ArgfsTer5
ENST00000489037.2:c.4496_4497del ENSP00000420781.2:p.Gln1499ArgfsTer5
ENST00000493919.6:c.1124_1125del ENSP00000418819.2:p.Gln375ArgfsTer5
ENST00000494123.6:c.4574_4575del ENSP00000419103.2:p.Gln1525ArgfsTer5
ENST00000497488.2:c.3686_3687del ENSP00000418986.2:p.Gln1229ArgfsTer5
ENST00000618469.2:c.4574_4575del ENSP00000478114.2:p.Gln1525ArgfsTer5
ENST00000634433.2:c.4451_4452del ENSP00000489431.2:p.Gln1484ArgfsTer5
ENST00000644379.2:c.4640_4641del ENSP00000496570.2:p.Gln1547ArgfsTer5
ENST00000644555.2:c.1124_1125del ENSP00000494614.2:p.Gln375ArgfsTer5
ENST00000652672.2:c.4433_4434del ENSP00000498906.2:p.Gln1478ArgfsTer5
ENST00000484087.6:c.1136_1137del ENSP00000419481.2:p.Gln379ArgfsTer5
ENST00000700182.1:c.1181_1182del ENSP00000514849.1:p.Gln394ArgfsTer5
ENST00000357654.9:c.4574_4575del MANE Select ENSP00000350283.3:p.Gln1525ArgfsTer5
ENST00000471181.7:c.4637_4638del ENSP00000418960.2:p.Gln1546ArgfsTer5
ENST00000644379.1:c.961_962del
ENST00000352993.7:c.1148_1149del ENSP00000312236.5:p.Gln383ArgfsTer5
ENST00000357654.7:c.4574_4575del ENSP00000350283.3:p.Gln1525ArgfsTer5
ENST00000461221.5:c.*4357_*4358del ENSP00000418548.1:n.*4357_*4358del
ENST00000468300.5:c.1262_1263del ENSP00000417148.1:p.Gln421ArgfsTer5
ENST00000471181.6:c.4637_4638del ENSP00000418960.2:p.Gln1546ArgfsTer5
ENST00000478531.5:c.1262_1263del ENSP00000420412.1:p.Gln421ArgfsTer5
ENST00000484087.5:c.887_888del ENSP00000419481.1:p.Gln296ArgfsTer5
ENST00000491747.6:c.1262_1263del ENSP00000420705.2:p.Gln421ArgfsTer5
ENST00000493795.5:c.4433_4434del ENSP00000418775.1:p.Gln1478ArgfsTer5
ENST00000493919.5:c.1124_1125del ENSP00000418819.1:p.Gln375ArgfsTer5
ENST00000586385.5:c.5-10481_5-10480del ENSP00000465818.1:n.5-10481_5-10480del
ENST00000591534.5:c.47_48del ENSP00000467329.1:p.Gln16ArgfsTer5
ENST00000591849.5:c.-98-24242_-98-24241del ENSP00000465347.1:n.-98-24242_-98-24241de...
NM_007294.3:c.4574_4575del , LRG_292t1:c.4574_4575del NP_009225.1:p.Gln1525ArgfsTer5
NM_007297.3:c.4433_4434del NP_009228.2:p.Gln1478ArgfsTer5
NM_007298.3:c.1262_1263del NP_009229.2:p.Gln421ArgfsTer5
NM_007299.3:c.1262_1263del NP_009230.2:p.Gln421ArgfsTer5
NM_007300.3:c.4637_4638del NP_009231.2:p.Gln1546ArgfsTer5
NR_027676.1:n.4710_4711del
NM_007294.4:c.4574_4575del MANE Select NP_009225.1:p.Gln1525ArgfsTer5
NM_007297.4:c.4433_4434del NP_009228.2:p.Gln1478ArgfsTer5
NM_007299.4:c.1262_1263del NP_009230.2:p.Gln421ArgfsTer5
NM_007300.4:c.4637_4638del NP_009231.2:p.Gln1546ArgfsTer5
NR_027676.2:n.4751_4752del
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