Canonical Allele Identifier: CA003059
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55305
ClinVar RCV Id: RCV000257711 RCV000496799
dbSNP Id: rs397509201
MyVariant Identifiers: chr17:g.41223046_41223058del (hg19) chr17:g.43071029_43071041del (hg38)
PubMed: PMID:16287141
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43071031_43071043del , CM000679.2:g.43071031_43071043del GRCh38
NC_000017.10:g.41223048_41223060del , CM000679.1:g.41223048_41223060del GRCh37
NC_000017.9:g.38476574_38476586del NCBI36
NG_005905.2:g.146943_146955del , LRG_292:g.146943_146955del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4870_4882del ENSP00000417241.2:p.Tyr1624LysfsTer4
ENST00000470026.6:c.4873_4885del ENSP00000419274.2:p.Tyr1625LysfsTer4
ENST00000473961.6:c.4747_4759del ENSP00000420201.2:p.Tyr1583LysfsTer4
ENST00000476777.6:c.4867_4879del ENSP00000417554.2:p.Tyr1623LysfsTer4
ENST00000477152.6:c.4795_4807del ENSP00000419988.2:p.Tyr1599LysfsTer4
ENST00000478531.6:c.1561_1573del ENSP00000420412.2:p.Tyr521LysfsTer4
ENST00000489037.2:c.4795_4807del ENSP00000420781.2:p.Tyr1599LysfsTer4
ENST00000493919.6:c.1423_1435del ENSP00000418819.2:p.Tyr475LysfsTer4
ENST00000494123.6:c.4873_4885del ENSP00000419103.2:p.Tyr1625LysfsTer4
ENST00000497488.2:c.3985_3997del ENSP00000418986.2:p.Tyr1329LysfsTer4
ENST00000618469.2:c.4873_4885del ENSP00000478114.2:p.Tyr1625LysfsTer4
ENST00000634433.2:c.4750_4762del ENSP00000489431.2:p.Tyr1584LysfsTer4
ENST00000644379.2:c.4939_4951del ENSP00000496570.2:p.Tyr1647LysfsTer4
ENST00000644555.2:c.1423_1435del ENSP00000494614.2:p.Tyr475LysfsTer4
ENST00000652672.2:c.4732_4744del ENSP00000498906.2:p.Tyr1578LysfsTer4
ENST00000484087.6:c.1435_1447del ENSP00000419481.2:p.Tyr479LysfsTer4
ENST00000700182.1:c.1480_1492del ENSP00000514849.1:p.Tyr494LysfsTer4
ENST00000357654.9:c.4873_4885del MANE Select ENSP00000350283.3:p.Tyr1625LysfsTer4
ENST00000471181.7:c.4936_4948del ENSP00000418960.2:p.Tyr1646LysfsTer4
ENST00000644379.1:c.1260_1272del
ENST00000352993.7:c.1447_1459del ENSP00000312236.5:p.Tyr483LysfsTer4
ENST00000357654.7:c.4873_4885del ENSP00000350283.3:p.Tyr1625LysfsTer4
ENST00000461221.5:c.*4656_*4668del ENSP00000418548.1:n.*4656_*4668del
ENST00000468300.5:c.1561_1573del ENSP00000417148.1:p.Tyr521LysfsTer4
ENST00000471181.6:c.4936_4948del ENSP00000418960.2:p.Tyr1646LysfsTer4
ENST00000472490.1:n.26_38del
ENST00000478531.5:c.1561_1573del ENSP00000420412.1:p.Tyr521LysfsTer4
ENST00000484087.5:c.1186_1198del ENSP00000419481.1:p.Tyr396LysfsTer4
ENST00000491747.6:c.1561_1573del ENSP00000420705.2:p.Tyr521LysfsTer4
ENST00000493795.5:c.4732_4744del ENSP00000418775.1:p.Tyr1578LysfsTer4
ENST00000493919.5:c.1423_1435del ENSP00000418819.1:p.Tyr475LysfsTer4
ENST00000586385.5:c.5-7090_5-7078del ENSP00000465818.1:n.5-7090_5-7078del
ENST00000591534.5:c.346_358del ENSP00000467329.1:p.Tyr116LysfsTer4
ENST00000591849.5:c.-98-20851_-98-20839del ENSP00000465347.1:n.-98-20851_-98-20839de...
NM_007294.3:c.4873_4885del , LRG_292t1:c.4873_4885del NP_009225.1:p.Tyr1625LysfsTer4
NM_007297.3:c.4732_4744del NP_009228.2:p.Tyr1578LysfsTer4
NM_007298.3:c.1561_1573del NP_009229.2:p.Tyr521LysfsTer4
NM_007299.3:c.1561_1573del NP_009230.2:p.Tyr521LysfsTer4
NM_007300.3:c.4936_4948del NP_009231.2:p.Tyr1646LysfsTer4
NR_027676.1:n.5009_5021del
NM_007294.4:c.4873_4885del MANE Select NP_009225.1:p.Tyr1625LysfsTer4
NM_007297.4:c.4732_4744del NP_009228.2:p.Tyr1578LysfsTer4
NM_007299.4:c.1561_1573del NP_009230.2:p.Tyr521LysfsTer4
NM_007300.4:c.4936_4948del NP_009231.2:p.Tyr1646LysfsTer4
NR_027676.2:n.5050_5062del
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