Canonical Allele Identifier: CA2536074651
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038484del , CM000668.2:g.32038484del GRCh38
NC_000006.11:g.32006261del , CM000668.1:g.32006261del GRCh37
NC_000006.10:g.32114240del NCBI36
NG_007941.2:g.5177del
NG_007941.3:g.5180del

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.62del MANE Select ENSP00000496625.1:p.Asn21ThrfsTer?
ENST00000418967.6:c.62del ENSP00000408860.2:p.Asn21ThrfsTer?
ENST00000435122.3:c.62del ENSP00000415043.2:p.Asn21ThrfsTer?
ENST00000466779.5:c.62del ENSP00000417321.1:p.Asn21ThrfsTer?
ENST00000469053.5:c.62del ENSP00000418104.1:p.Asn21ThrfsTer?
ENST00000471671.4:c.62del ENSP00000418561.1:p.Asn21ThrfsTer?
ENST00000478281.5:c.62del ENSP00000419572.1:p.Asn21ThrfsTer?
ENST00000479074.5:n.120del
ENST00000479730.5:n.120del
ENST00000480027.1:n.115del
ENST00000483041.5:n.115del
ENST00000486063.5:n.145del
ENST00000488465.1:n.70del
NM_000500.7:c.62del NP_000491.4:p.Asn21ThrfsTer?
NM_001128590.3:c.62del NP_001122062.3:p.Asn21ThrfsTer?
XM_011514314.1:c.-363del XP_011512616.1:n.-363del
NM_000500.9:c.62del MANE Select NP_000491.4:p.Asn21ThrfsTer?
NM_001368143.1:c.-363del NP_001355072.1:n.-363del
NM_001368144.1:c.-273del NP_001355073.1:n.-273del
NM_001128590.4:c.62del NP_001122062.3:p.Asn21ThrfsTer?
NM_001368143.2:c.-363del NP_001355072.1:n.-363del
NM_001368144.2:c.-273del NP_001355073.1:n.-273del