Canonical Allele Identifier: CA2842765940
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039852dup , CM000668.2:g.32039852dup GRCh38
NC_000006.11:g.32007629dup , CM000668.1:g.32007629dup GRCh37
NC_000006.10:g.32115608dup NCBI36
NG_007941.2:g.6545dup
NG_008337.2:g.74524dup
NG_007941.3:g.6548dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.738+17dup MANE Select ENSP00000496625.1:n.738+17dup
ENST00000418967.6:c.738+17dup ENSP00000408860.2:n.738+17dup
ENST00000435122.3:c.648+17dup ENSP00000415043.2:n.648+17dup
ENST00000462278.1:n.444dup
ENST00000479074.5:n.796+17dup
ENST00000479730.5:n.854+17dup
ENST00000483041.5:n.907+17dup
ENST00000486063.5:n.918+17dup
NM_000500.7:c.738+17dup NP_000491.4:n.738+17dup
NM_001128590.3:c.648+17dup NP_001122062.3:n.648+17dup
XM_011514314.1:c.333+17dup XP_011512616.1:n.333+17dup
NM_000500.9:c.738+17dup MANE Select NP_000491.4:n.738+17dup
NM_001368143.1:c.333+17dup NP_001355072.1:n.333+17dup
NM_001368144.1:c.333+17dup NP_001355073.1:n.333+17dup
NM_001128590.4:c.648+17dup NP_001122062.3:n.648+17dup
NM_001368143.2:c.333+17dup NP_001355072.1:n.333+17dup
NM_001368144.2:c.333+17dup NP_001355073.1:n.333+17dup