Canonical Allele Identifier: CA10588958
Gene: CYP21A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 266040
ClinVar RCV Id: RCV000256427
dbSNP Id: rs886038207

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038581_32038582del , CM000668.2:g.32038581_32038582del GRCh38
NC_000006.11:g.32006358_32006359del , CM000668.1:g.32006358_32006359del GRCh37
NC_000006.10:g.32114337_32114338del NCBI36
NG_007941.2:g.5274_5275del
NG_007941.3:g.5277_5278del

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.159_160del MANE Select ENSP00000496625.1:p.Gln54GlufsTer25
ENST00000418967.6:c.159_160del ENSP00000408860.2:p.Gln54GlufsTer25
ENST00000435122.3:c.159_160del ENSP00000415043.2:p.Gln54GlufsTer19
ENST00000466779.5:c.159_160del ENSP00000417321.1:p.Gln54GlufsTer25
ENST00000469053.5:c.159_160del ENSP00000418104.1:p.Gln54GlufsTer?
ENST00000471671.4:c.159_160del ENSP00000418561.1:p.Gln54GlufsTer25
ENST00000478281.5:c.159_160del ENSP00000419572.1:p.Gln54GlufsTer25
ENST00000479074.5:n.217_218del
ENST00000479730.5:n.217_218del
ENST00000480027.1:n.212_213del
ENST00000483041.5:n.212_213del
ENST00000486063.5:n.242_243del
ENST00000488465.1:n.167_168del
NM_000500.7:c.159_160del NP_000491.4:p.Gln54GlufsTer25
NM_001128590.3:c.159_160del NP_001122062.3:p.Gln54GlufsTer19
XM_011514314.1:c.-266_-265del XP_011512616.1:n.-266_-265del
NM_000500.9:c.159_160del MANE Select NP_000491.4:p.Gln54GlufsTer25
NM_001368143.1:c.-266_-265del NP_001355072.1:n.-266_-265del
NM_001368144.1:c.-176_-175del NP_001355073.1:n.-176_-175del
NM_001128590.4:c.159_160del NP_001122062.3:p.Gln54GlufsTer19
NM_001368143.2:c.-266_-265del NP_001355072.1:n.-266_-265del
NM_001368144.2:c.-176_-175del NP_001355073.1:n.-176_-175del