Canonical Allele Identifier: CA626081050
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1567770172

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43064920_43064979del , CM000679.2:g.43064920_43064979del GRCh38
NC_000017.10:g.41216937_41216996del , CM000679.1:g.41216937_41216996del GRCh37
NC_000017.9:g.38470463_38470522del NCBI36
NG_005905.2:g.153007_153066del , LRG_292:g.153007_153066del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5072-1026_5072-967del ENSP00000417241.2:n.5072-1026_5072-967del
ENST00000470026.6:c.5075-1026_5075-967del ENSP00000419274.2:n.5075-1026_5075-967del
ENST00000473961.6:c.4949-1026_4949-967del ENSP00000420201.2:n.4949-1026_4949-967del
ENST00000476777.6:c.5069-1026_5069-967del ENSP00000417554.2:n.5069-1026_5069-967del
ENST00000477152.6:c.4997-1026_4997-967del ENSP00000419988.2:n.4997-1026_4997-967del
ENST00000478531.6:c.1763-1026_1763-967del ENSP00000420412.2:n.1763-1026_1763-967del
ENST00000489037.2:c.4997-1026_4997-967del ENSP00000420781.2:n.4997-1026_4997-967del
ENST00000493919.6:c.1625-1026_1625-967del ENSP00000418819.2:n.1625-1026_1625-967del
ENST00000494123.6:c.5075-1026_5075-967del ENSP00000419103.2:n.5075-1026_5075-967del
ENST00000497488.2:c.4187-1026_4187-967del ENSP00000418986.2:n.4187-1026_4187-967del
ENST00000618469.2:c.5075-1026_5075-967del ENSP00000478114.2:n.5075-1026_5075-967del
ENST00000634433.2:c.4952-1026_4952-967del ENSP00000489431.2:n.4952-1026_4952-967del
ENST00000644379.2:c.5141-1026_5141-967del ENSP00000496570.2:n.5141-1026_5141-967del
ENST00000644555.2:c.1625-1026_1625-967del ENSP00000494614.2:n.1625-1026_1625-967del
ENST00000652672.2:c.4934-1026_4934-967del ENSP00000498906.2:n.4934-1026_4934-967del
ENST00000484087.6:c.1637-1026_1637-967del ENSP00000419481.2:n.1637-1026_1637-967del
ENST00000357654.9:c.5075-1026_5075-967del MANE Select ENSP00000350283.3:n.5075-1026_5075-967del
ENST00000471181.7:c.5138-1026_5138-967del ENSP00000418960.2:n.5138-1026_5138-967del
ENST00000644379.1:c.1462-1026_1462-967del
ENST00000352993.7:c.1649-1026_1649-967del ENSP00000312236.5:n.1649-1026_1649-967del
ENST00000357654.7:c.5075-1026_5075-967del ENSP00000350283.3:n.5075-1026_5075-967del
ENST00000461221.5:c.*4858-1026_*4858-967del ENSP00000418548.1:n.*4858-1026_*4858-967del
ENST00000468300.5:c.1763-1026_1763-967del ENSP00000417148.1:n.1763-1026_1763-967del
ENST00000471181.6:c.5138-1026_5138-967del ENSP00000418960.2:n.5138-1026_5138-967del
ENST00000478531.5:c.1763-1026_1763-967del ENSP00000420412.1:n.1763-1026_1763-967del
ENST00000484087.5:c.1388-1026_1388-967del ENSP00000419481.1:n.1388-1026_1388-967del
ENST00000491747.6:c.1763-1026_1763-967del ENSP00000420705.2:n.1763-1026_1763-967del
ENST00000493795.5:c.4934-1026_4934-967del ENSP00000418775.1:n.4934-1026_4934-967del
ENST00000493919.5:c.1625-1026_1625-967del ENSP00000418819.1:n.1625-1026_1625-967del
ENST00000586385.5:c.5-1026_5-967del ENSP00000465818.1:n.5-1026_5-967del
ENST00000591534.5:c.548-1026_548-967del ENSP00000467329.1:n.548-1026_548-967del
ENST00000591849.5:c.-98-14787_-98-14728del ENSP00000465347.1:n.-98-14787_-98-14728del
NM_007294.3:c.5075-1026_5075-967del , LRG_292t1:c.5075-1026_5075-967del NP_009225.1:n.5075-1026_5075-967del
NM_007297.3:c.4934-1026_4934-967del NP_009228.2:n.4934-1026_4934-967del
NM_007298.3:c.1763-1026_1763-967del NP_009229.2:n.1763-1026_1763-967del
NM_007299.3:c.1763-1026_1763-967del NP_009230.2:n.1763-1026_1763-967del
NM_007300.3:c.5138-1026_5138-967del NP_009231.2:n.5138-1026_5138-967del
NR_027676.1:n.5211-1026_5211-967del
NM_007294.4:c.5075-1026_5075-967del MANE Select NP_009225.1:n.5075-1026_5075-967del
NM_007297.4:c.4934-1026_4934-967del NP_009228.2:n.4934-1026_4934-967del
NM_007299.4:c.1763-1026_1763-967del NP_009230.2:n.1763-1026_1763-967del
NM_007300.4:c.5138-1026_5138-967del NP_009231.2:n.5138-1026_5138-967del
NR_027676.2:n.5252-1026_5252-967del