Canonical Allele Identifier: CA1619396849
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039250_32039251delinsTA , CM000668.2:g.32039250_32039251delinsTA GRCh38
NC_000006.11:g.32007027_32007028delinsTA , CM000668.1:g.32007027_32007028delinsTA GRCh37
NC_000006.10:g.32115006_32115007delinsTA NCBI36
NG_007941.2:g.5943_5944delinsTA
NG_008337.2:g.75124_75125delinsTA
NG_007941.3:g.5946_5947delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.447+2_447+3delinsTA MANE Select ENSP00000496625.1:n.447+2_447+3delinsTA
ENST00000418967.6:c.447+2_447+3delinsTA ENSP00000408860.2:n.447+2_447+3delinsTA
ENST00000435122.3:c.357+2_357+3delinsTA ENSP00000415043.2:n.357+2_357+3delinsTA
ENST00000462278.1:n.35+2_35+3delinsTA
ENST00000464325.5:n.368+2_368+3delinsTA
ENST00000466779.5:c.*139+2_*139+3delinsTA ENSP00000417321.1:n.*139+2_*139+3delinsTA
ENST00000466879.5:n.498+2_498+3delinsTA
ENST00000469053.5:c.*139+2_*139+3delinsTA ENSP00000418104.1:n.*139+2_*139+3delinsTA
ENST00000471671.4:c.447+2_447+3delinsTA ENSP00000418561.1:n.447+2_447+3delinsTA
ENST00000478281.5:c.480+2_480+3delinsTA ENSP00000419572.1:n.480+2_480+3delinsTA
ENST00000479074.5:n.505+2_505+3delinsTA
ENST00000479730.5:n.602+2_602+3delinsTA
ENST00000483041.5:n.616+2_616+3delinsTA
ENST00000486063.5:n.627+2_627+3delinsTA
ENST00000488465.1:n.455+2_455+3delinsTA
NM_000500.7:c.447+2_447+3delinsTA NP_000491.4:n.447+2_447+3delinsTA
NM_001128590.3:c.357+2_357+3delinsTA NP_001122062.3:n.357+2_357+3delinsTA
XM_011514314.1:c.42+2_42+3delinsTA XP_011512616.1:n.42+2_42+3delinsTA
NM_000500.9:c.447+2_447+3delinsTA MANE Select NP_000491.4:n.447+2_447+3delinsTA
NM_001368143.1:c.42+2_42+3delinsTA NP_001355072.1:n.42+2_42+3delinsTA
NM_001368144.1:c.42+2_42+3delinsTA NP_001355073.1:n.42+2_42+3delinsTA
NM_001128590.4:c.357+2_357+3delinsTA NP_001122062.3:n.357+2_357+3delinsTA
NM_001368143.2:c.42+2_42+3delinsTA NP_001355072.1:n.42+2_42+3delinsTA
NM_001368144.2:c.42+2_42+3delinsTA NP_001355073.1:n.42+2_42+3delinsTA