Canonical Allele Identifier: CA2678089019
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040144_32040158del , CM000668.2:g.32040144_32040158del GRCh38
NC_000006.11:g.32007921_32007935del , CM000668.1:g.32007921_32007935del GRCh37
NC_000006.10:g.32115900_32115914del NCBI36
NG_007941.2:g.6837_6851del
NG_008337.2:g.74218_74232del
NG_007941.3:g.6840_6854del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.878_892del MANE Select ENSP00000496625.1:p.Gly293_Thr297del
ENST00000418967.6:c.878_892del ENSP00000408860.2:p.Gly293_Thr297del
ENST00000435122.3:c.788_802del ENSP00000415043.2:p.Gly263_Thr267del
ENST00000479074.5:n.936_950del
ENST00000479730.5:n.994_1008del
ENST00000483041.5:n.1047_1061del
ENST00000486063.5:n.919-262_919-248del
NM_000500.7:c.878_892del NP_000491.4:p.Gly293_Thr297del
NM_001128590.3:c.788_802del NP_001122062.3:p.Gly263_Thr267del
XM_011514314.1:c.473_487del XP_011512616.1:p.Gly158_Thr162del
NM_000500.9:c.878_892del MANE Select NP_000491.4:p.Gly293_Thr297del
NM_001368143.1:c.473_487del NP_001355072.1:p.Gly158_Thr162del
NM_001368144.1:c.473_487del NP_001355073.1:p.Gly158_Thr162del
NM_001128590.4:c.788_802del NP_001122062.3:p.Gly263_Thr267del
NM_001368143.2:c.473_487del NP_001355072.1:p.Gly158_Thr162del
NM_001368144.2:c.473_487del NP_001355073.1:p.Gly158_Thr162del