Canonical Allele Identifier: CA003695
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55612
ClinVar RCV Id: RCV000049034 RCV000112693 RCV000564883
dbSNP Id: rs80357721
MyVariant Identifiers: chr17:g.41197766del (hg19) chr17:g.43045749del (hg38)
PubMed: PMID:9544766
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43045749del , CM000679.2:g.43045749del GRCh38
NC_000017.10:g.41197766del , CM000679.1:g.41197766del GRCh37
NC_000017.9:g.38451292del NCBI36
NG_005905.2:g.172235del , LRG_292:g.172235del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5518del ENSP00000417241.2:p.Ser1840ValfsTer2
ENST00000470026.6:c.5521del ENSP00000419274.2:p.Ser1841ValfsTer2
ENST00000473961.6:c.5395del ENSP00000420201.2:p.Ser1799ValfsTer2
ENST00000476777.6:c.5515del ENSP00000417554.2:p.Ser1839ValfsTer2
ENST00000477152.6:c.5443del ENSP00000419988.2:p.Ser1815ValfsTer2
ENST00000478531.6:c.2209del ENSP00000420412.2:p.Ser737ValfsTer2
ENST00000489037.2:c.5443del ENSP00000420781.2:p.Ser1815ValfsTer2
ENST00000493919.6:c.2071del ENSP00000418819.2:p.Ser691ValfsTer2
ENST00000494123.6:c.5521del ENSP00000419103.2:p.Ser1841ValfsTer2
ENST00000497488.2:c.4633del ENSP00000418986.2:p.Ser1545ValfsTer2
ENST00000618469.2:c.5521del ENSP00000478114.2:p.Ser1841ValfsTer2
ENST00000634433.2:c.5398del ENSP00000489431.2:p.Ser1800ValfsTer2
ENST00000644379.2:c.5587del ENSP00000496570.2:p.Ser1863ValfsTer2
ENST00000644555.2:c.2071del ENSP00000494614.2:p.Ser691ValfsTer2
ENST00000652672.2:c.5380del ENSP00000498906.2:p.Ser1794ValfsTer2
ENST00000484087.6:c.2083del ENSP00000419481.2:p.Ser695ValfsTer2
ENST00000700081.1:n.1404del
ENST00000700082.1:n.885del
ENST00000357654.9:c.5521del MANE Select ENSP00000350283.3:p.Ser1841ValfsTer2
ENST00000471181.7:c.5584del ENSP00000418960.2:p.Ser1862ValfsTer2
ENST00000644379.1:c.1908del
ENST00000352993.7:c.2095del ENSP00000312236.5:p.Ser699ValfsTer2
ENST00000357654.7:c.5521del ENSP00000350283.3:p.Ser1841ValfsTer2
ENST00000461221.5:c.*5304del ENSP00000418548.1:n.*5304del
ENST00000468300.5:c.*35del ENSP00000417148.1:n.*35del
ENST00000471181.6:c.5584del ENSP00000418960.2:p.Ser1862ValfsTer2
ENST00000491747.6:c.2209del ENSP00000420705.2:p.Ser737ValfsTer2
ENST00000493795.5:c.5380del ENSP00000418775.1:p.Ser1794ValfsTer2
ENST00000586385.5:c.451del ENSP00000465818.1:p.Ser151ValfsTer2
ENST00000591534.5:c.994del ENSP00000467329.1:p.Ser332ValfsTer2
ENST00000591849.5:c.220del ENSP00000465347.1:p.Ser74ValfsTer2
NM_007294.3:c.5521del , LRG_292t1:c.5521del NP_009225.1:p.Ser1841ValfsTer2
NM_007297.3:c.5380del NP_009228.2:p.Ser1794ValfsTer2
NM_007298.3:c.2209del NP_009229.2:p.Ser737ValfsTer2
NM_007299.3:c.*35del NP_009230.2:n.*35del
NM_007300.3:c.5584del NP_009231.2:p.Ser1862ValfsTer2
NR_027676.1:n.5657del
NM_007294.4:c.5521del MANE Select NP_009225.1:p.Ser1841ValfsTer2
NM_007297.4:c.5380del NP_009228.2:p.Ser1794ValfsTer2
NM_007299.4:c.*35del NP_009230.2:n.*35del
NM_007300.4:c.5584del NP_009231.2:p.Ser1862ValfsTer2
NR_027676.2:n.5698del
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