Canonical Allele Identifier: CA2530672146
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039083_32039084insGAG , CM000668.2:g.32039083_32039084insGAG GRCh38
NC_000006.11:g.32006860_32006861insGAG , CM000668.1:g.32006860_32006861insGAG GRCh37
NC_000006.10:g.32114839_32114840insGAG NCBI36
NG_007941.2:g.5776_5777insGAG
NG_007941.3:g.5779_5780insGAG

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.293-11_293-10insGAG MANE Select ENSP00000496625.1:n.293-11_293-10insGAG
ENST00000418967.6:c.293-11_293-10insGAG ENSP00000408860.2:n.293-11_293-10insGAG
ENST00000435122.3:c.203-11_203-10insGAG ENSP00000415043.2:n.203-11_203-10insGAG
ENST00000464325.5:n.230-27_230-26insGAG
ENST00000466779.5:c.301_302insGAG ENSP00000417321.1:p.Ser101Ter
ENST00000466879.5:n.333_334insGAG
ENST00000469053.5:c.211_212insGAG ENSP00000418104.1:p.Ser71Ter
ENST00000471671.4:c.293-11_293-10insGAG ENSP00000418561.1:n.293-11_293-10insGAG
ENST00000478281.5:c.315_316insGAG ENSP00000419572.1:p.Pro105_Pro106insGlu
ENST00000479074.5:n.351-11_351-10insGAG
ENST00000479730.5:n.448-11_448-10insGAG
ENST00000480027.1:n.617_618insGAG
ENST00000483041.5:n.451_452insGAG
ENST00000486063.5:n.473-11_473-10insGAG
ENST00000488465.1:n.301-11_301-10insGAG
NM_000500.7:c.293-11_293-10insGAG NP_000491.4:n.293-11_293-10insGAG
NM_001128590.3:c.203-11_203-10insGAG NP_001122062.3:n.203-11_203-10insGAG
XM_011514314.1:c.-124_-123insGAG XP_011512616.1:n.-124_-123insGAG
NM_000500.9:c.293-11_293-10insGAG MANE Select NP_000491.4:n.293-11_293-10insGAG
NM_001368143.1:c.-124_-123insGAG NP_001355072.1:n.-124_-123insGAG
NM_001368144.1:c.-124_-123insGAG NP_001355073.1:n.-124_-123insGAG
NM_001128590.4:c.203-11_203-10insGAG NP_001122062.3:n.203-11_203-10insGAG
NM_001368143.2:c.-124_-123insGAG NP_001355072.1:n.-124_-123insGAG
NM_001368144.2:c.-124_-123insGAG NP_001355073.1:n.-124_-123insGAG