Canonical Allele Identifier: CA2678088542
Gene: CYP21A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039684_32039685insA , CM000668.2:g.32039684_32039685insA GRCh38
NC_000006.11:g.32007461_32007462insA , CM000668.1:g.32007461_32007462insA GRCh37
NC_000006.10:g.32115440_32115441insA NCBI36
NG_007941.2:g.6377_6378insA
NG_008337.2:g.74690_74691insT
NG_007941.3:g.6380_6381insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.651+37_651+38insA MANE Select ENSP00000496625.1:n.651+37_651+38insA
ENST00000418967.6:c.651+37_651+38insA ENSP00000408860.2:n.651+37_651+38insA
ENST00000435122.3:c.561+37_561+38insA ENSP00000415043.2:n.561+37_561+38insA
ENST00000462278.1:n.276_277insA
ENST00000464325.5:n.572+37_572+38insA
ENST00000466779.5:c.*343+37_*343+38insA ENSP00000417321.1:n.*343+37_*343+38insA
ENST00000466879.5:n.702+37_702+38insA
ENST00000479074.5:n.709+37_709+38insA
ENST00000479730.5:n.767+37_767+38insA
ENST00000483041.5:n.820+37_820+38insA
ENST00000486063.5:n.831+37_831+38insA
NM_000500.7:c.651+37_651+38insA NP_000491.4:n.651+37_651+38insA
NM_001128590.3:c.561+37_561+38insA NP_001122062.3:n.561+37_561+38insA
XM_011514314.1:c.246+37_246+38insA XP_011512616.1:n.246+37_246+38insA
NM_000500.9:c.651+37_651+38insA MANE Select NP_000491.4:n.651+37_651+38insA
NM_001368143.1:c.246+37_246+38insA NP_001355072.1:n.246+37_246+38insA
NM_001368144.1:c.246+37_246+38insA NP_001355073.1:n.246+37_246+38insA
NM_001128590.4:c.561+37_561+38insA NP_001122062.3:n.561+37_561+38insA
NM_001368143.2:c.246+37_246+38insA NP_001355072.1:n.246+37_246+38insA
NM_001368144.2:c.246+37_246+38insA NP_001355073.1:n.246+37_246+38insA