Canonical Allele Identifier: CA2770519830
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040837_32040840del , CM000668.2:g.32040837_32040840del GRCh38
NC_000006.11:g.32008614_32008617del , CM000668.1:g.32008614_32008617del GRCh37
NC_000006.10:g.32116593_32116596del NCBI36
NG_007941.2:g.7530_7533del
NG_008337.2:g.73535_73538del
NG_007941.3:g.7533_7536del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1223-32_1223-29del MANE Select ENSP00000496625.1:n.1223-32_1223-29del
ENST00000418967.6:c.1223-32_1223-29del ENSP00000408860.2:n.1223-32_1223-29del
ENST00000435122.3:c.1133-32_1133-29del ENSP00000415043.2:n.1133-32_1133-29del
ENST00000479074.5:n.1364-32_1364-29del
ENST00000479730.5:n.1339-32_1339-29del
ENST00000483041.5:n.1392-32_1392-29del
ENST00000486063.5:n.1202-32_1202-29del
NM_000500.7:c.1223-32_1223-29del NP_000491.4:n.1223-32_1223-29del
NM_001128590.3:c.1133-32_1133-29del NP_001122062.3:n.1133-32_1133-29del
XM_011514314.1:c.818-32_818-29del XP_011512616.1:n.818-32_818-29del
NM_000500.9:c.1223-32_1223-29del MANE Select NP_000491.4:n.1223-32_1223-29del
NM_001368143.1:c.818-32_818-29del NP_001355072.1:n.818-32_818-29del
NM_001368144.1:c.818-32_818-29del NP_001355073.1:n.818-32_818-29del
NM_001128590.4:c.1133-32_1133-29del NP_001122062.3:n.1133-32_1133-29del
NM_001368143.2:c.818-32_818-29del NP_001355072.1:n.818-32_818-29del
NM_001368144.2:c.818-32_818-29del NP_001355073.1:n.818-32_818-29del