Canonical Allele Identifier: CA16620421
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1064794467

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43057115_43057116del , CM000679.2:g.43057115_43057116del GRCh38
NC_000017.10:g.41209132_41209133del , CM000679.1:g.41209132_41209133del GRCh37
NC_000017.9:g.38462658_38462659del NCBI36
NG_005905.2:g.160870_160871del , LRG_292:g.160870_160871del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5212_5213del ENSP00000417241.2:p.Asp1738CysfsTer?
ENST00000470026.6:c.5215_5216del ENSP00000419274.2:p.Asp1739CysfsTer?
ENST00000473961.6:c.5089_5090del ENSP00000420201.2:p.Asp1697CysfsTer?
ENST00000476777.6:c.5209_5210del ENSP00000417554.2:p.Asp1737CysfsTer?
ENST00000477152.6:c.5137_5138del ENSP00000419988.2:p.Asp1713CysfsTer?
ENST00000478531.6:c.1903_1904del ENSP00000420412.2:p.Asp635CysfsTer?
ENST00000489037.2:c.5137_5138del ENSP00000420781.2:p.Asp1713CysfsTer?
ENST00000493919.6:c.1765_1766del ENSP00000418819.2:p.Asp589CysfsTer?
ENST00000494123.6:c.5215_5216del ENSP00000419103.2:p.Asp1739CysfsTer?
ENST00000497488.2:c.4327_4328del ENSP00000418986.2:p.Asp1443CysfsTer?
ENST00000618469.2:c.5215_5216del ENSP00000478114.2:p.Asp1739CysfsTer?
ENST00000634433.2:c.5092_5093del ENSP00000489431.2:p.Asp1698CysfsTer?
ENST00000644379.2:c.5281_5282del ENSP00000496570.2:p.Asp1761CysfsTer?
ENST00000644555.2:c.1765_1766del ENSP00000494614.2:p.Asp589CysfsTer?
ENST00000652672.2:c.5074_5075del ENSP00000498906.2:p.Asp1692CysfsTer?
ENST00000484087.6:c.1777_1778del ENSP00000419481.2:p.Asp593CysfsTer?
ENST00000357654.9:c.5215_5216del MANE Select ENSP00000350283.3:p.Asp1739CysfsTer?
ENST00000471181.7:c.5278_5279del ENSP00000418960.2:p.Asp1760CysfsTer?
ENST00000644379.1:c.1602_1603del
ENST00000352993.7:c.1789_1790del ENSP00000312236.5:p.Asp597CysfsTer?
ENST00000357654.7:c.5215_5216del ENSP00000350283.3:p.Asp1739CysfsTer?
ENST00000461221.5:c.*4998_*4999del ENSP00000418548.1:n.*4998_*4999del
ENST00000468300.5:c.1903_1904del ENSP00000417148.1:p.Asp635CysfsTer?
ENST00000471181.6:c.5278_5279del ENSP00000418960.2:p.Asp1760CysfsTer?
ENST00000491747.6:c.1903_1904del ENSP00000420705.2:p.Asp635CysfsTer?
ENST00000493795.5:c.5074_5075del ENSP00000418775.1:p.Asp1692CysfsTer?
ENST00000586385.5:c.145_146del ENSP00000465818.1:p.Asp49CysfsTer?
ENST00000591534.5:c.688_689del ENSP00000467329.1:p.Asp230CysfsTer?
ENST00000591849.5:c.-98-6924_-98-6923del ENSP00000465347.1:n.-98-6924_-98-6923del
NM_007294.3:c.5215_5216del , LRG_292t1:c.5215_5216del NP_009225.1:p.Asp1739CysfsTer?
NM_007297.3:c.5074_5075del NP_009228.2:p.Asp1692CysfsTer?
NM_007298.3:c.1903_1904del NP_009229.2:p.Asp635CysfsTer?
NM_007299.3:c.1903_1904del NP_009230.2:p.Asp635CysfsTer?
NM_007300.3:c.5278_5279del NP_009231.2:p.Asp1760CysfsTer?
NR_027676.1:n.5351_5352del
NM_007294.4:c.5215_5216del MANE Select NP_009225.1:p.Asp1739CysfsTer?
NM_007297.4:c.5074_5075del NP_009228.2:p.Asp1692CysfsTer?
NM_007299.4:c.1903_1904del NP_009230.2:p.Asp635CysfsTer?
NM_007300.4:c.5278_5279del NP_009231.2:p.Asp1760CysfsTer?
NR_027676.2:n.5392_5393del