Canonical Allele Identifier: CA003219
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55386
ClinVar RCV Id: RCV001379223
dbSNP Id: rs80358345
MyVariant Identifiers: chr17:g.41215963_41215965del (hg19) chr17:g.43063946_43063948del (hg38)
PubMed: PMID:12955716 PMID:12955719 PMID:22505045 PMID:25136594
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063948_43063950del , CM000679.2:g.43063948_43063950del GRCh38
NC_000017.10:g.41215965_41215967del , CM000679.1:g.41215965_41215967del GRCh37
NC_000017.9:g.38469491_38469493del NCBI36
NG_005905.2:g.154036_154038del , LRG_292:g.154036_154038del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5075_5077del ENSP00000417241.2:p.Ala1692del
ENST00000470026.6:c.5078_5080del ENSP00000419274.2:p.Ala1693del
ENST00000473961.6:c.4952_4954del ENSP00000420201.2:p.Ala1651del
ENST00000476777.6:c.5072_5074del ENSP00000417554.2:p.Ala1691del
ENST00000477152.6:c.5000_5002del ENSP00000419988.2:p.Ala1667del
ENST00000478531.6:c.1766_1768del ENSP00000420412.2:p.Ala589del
ENST00000489037.2:c.5000_5002del ENSP00000420781.2:p.Ala1667del
ENST00000493919.6:c.1628_1630del ENSP00000418819.2:p.Ala543del
ENST00000494123.6:c.5078_5080del ENSP00000419103.2:p.Ala1693del
ENST00000497488.2:c.4190_4192del ENSP00000418986.2:p.Ala1397del
ENST00000618469.2:c.5078_5080del ENSP00000478114.2:p.Ala1693del
ENST00000634433.2:c.4955_4957del ENSP00000489431.2:p.Ala1652del
ENST00000644379.2:c.5144_5146del ENSP00000496570.2:p.Ala1715del
ENST00000644555.2:c.1628_1630del ENSP00000494614.2:p.Ala543del
ENST00000652672.2:c.4937_4939del ENSP00000498906.2:p.Ala1646del
ENST00000484087.6:c.1640_1642del ENSP00000419481.2:p.Ala547del
ENST00000357654.9:c.5078_5080del MANE Select ENSP00000350283.3:p.Ala1693del
ENST00000471181.7:c.5141_5143del ENSP00000418960.2:p.Ala1714del
ENST00000644379.1:c.1465_1467del
ENST00000352993.7:c.1652_1654del ENSP00000312236.5:p.Ala551del
ENST00000357654.7:c.5078_5080del ENSP00000350283.3:p.Ala1693del
ENST00000461221.5:c.*4861_*4863del ENSP00000418548.1:n.*4861_*4863del
ENST00000468300.5:c.1766_1768del ENSP00000417148.1:p.Ala589del
ENST00000471181.6:c.5141_5143del ENSP00000418960.2:p.Ala1714del
ENST00000478531.5:c.1766_1768del ENSP00000420412.1:p.Ala589del
ENST00000484087.5:c.1391_1393del ENSP00000419481.1:p.Ala464del
ENST00000491747.6:c.1766_1768del ENSP00000420705.2:p.Ala589del
ENST00000493795.5:c.4937_4939del ENSP00000418775.1:p.Ala1646del
ENST00000493919.5:c.1628_1630del ENSP00000418819.1:p.Ala543del
ENST00000586385.5:c.8_10del ENSP00000465818.1:p.Ala3del
ENST00000591534.5:c.551_553del ENSP00000467329.1:p.Ala184del
ENST00000591849.5:c.-98-13758_-98-13756del ENSP00000465347.1:n.-98-13758_-98-13756de...
NM_007294.3:c.5078_5080del , LRG_292t1:c.5078_5080del NP_009225.1:p.Ala1693del
NM_007297.3:c.4937_4939del NP_009228.2:p.Ala1646del
NM_007298.3:c.1766_1768del NP_009229.2:p.Ala589del
NM_007299.3:c.1766_1768del NP_009230.2:p.Ala589del
NM_007300.3:c.5141_5143del NP_009231.2:p.Ala1714del
NR_027676.1:n.5214_5216del
NM_007294.4:c.5078_5080del MANE Select NP_009225.1:p.Ala1693del
NM_007297.4:c.4937_4939del NP_009228.2:p.Ala1646del
NM_007299.4:c.1766_1768del NP_009230.2:p.Ala589del
NM_007300.4:c.5141_5143del NP_009231.2:p.Ala1714del
NR_027676.2:n.5255_5257del
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