Canonical Allele Identifier: CA823931846
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1355952334

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040765del , CM000668.2:g.32040765del GRCh38
NC_000006.11:g.32008542del , CM000668.1:g.32008542del GRCh37
NC_000006.10:g.32116521del NCBI36
NG_007941.2:g.7458del
NG_008337.2:g.73610del
NG_007941.3:g.7461del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1216del MANE Select ENSP00000496625.1:p.Trp406GlyfsTer?
ENST00000418967.6:c.1216del ENSP00000408860.2:p.Trp406GlyfsTer?
ENST00000435122.3:c.1126del ENSP00000415043.2:p.Trp376GlyfsTer?
ENST00000479074.5:n.1357del
ENST00000479730.5:n.1332del
ENST00000483041.5:n.1385del
ENST00000486063.5:n.1195del
NM_000500.7:c.1216del NP_000491.4:p.Trp406GlyfsTer?
NM_001128590.3:c.1126del NP_001122062.3:p.Trp376GlyfsTer?
XM_011514314.1:c.811del XP_011512616.1:p.Trp271GlyfsTer?
NM_000500.9:c.1216del MANE Select NP_000491.4:p.Trp406GlyfsTer?
NM_001368143.1:c.811del NP_001355072.1:p.Trp271GlyfsTer?
NM_001368144.1:c.811del NP_001355073.1:p.Trp271GlyfsTer?
NM_001128590.4:c.1126del NP_001122062.3:p.Trp376GlyfsTer?
NM_001368143.2:c.811del NP_001355072.1:p.Trp271GlyfsTer?
NM_001368144.2:c.811del NP_001355073.1:p.Trp271GlyfsTer?