Canonical Allele Identifier: CA2770519734
Gene: CYP21A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040302_32040303del , CM000668.2:g.32040302_32040303del GRCh38
NC_000006.11:g.32008079_32008080del , CM000668.1:g.32008079_32008080del GRCh37
NC_000006.10:g.32116058_32116059del NCBI36
NG_007941.2:g.6995_6996del
NG_008337.2:g.74074_74075del
NG_007941.3:g.6998_6999del

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.939+97_939+98del MANE Select ENSP00000496625.1:n.939+97_939+98del
ENST00000418967.6:c.939+97_939+98del ENSP00000408860.2:n.939+97_939+98del
ENST00000435122.3:c.849+97_849+98del ENSP00000415043.2:n.849+97_849+98del
ENST00000479074.5:n.997+97_997+98del
ENST00000479730.5:n.1055+97_1055+98del
ENST00000483041.5:n.1108+97_1108+98del
ENST00000486063.5:n.919-104_919-103del
NM_000500.7:c.939+97_939+98del NP_000491.4:n.939+97_939+98del
NM_001128590.3:c.849+97_849+98del NP_001122062.3:n.849+97_849+98del
XM_011514314.1:c.534+97_534+98del XP_011512616.1:n.534+97_534+98del
NM_000500.9:c.939+97_939+98del MANE Select NP_000491.4:n.939+97_939+98del
NM_001368143.1:c.534+97_534+98del NP_001355072.1:n.534+97_534+98del
NM_001368144.1:c.534+97_534+98del NP_001355073.1:n.534+97_534+98del
NM_001128590.4:c.849+97_849+98del NP_001122062.3:n.849+97_849+98del
NM_001368143.2:c.534+97_534+98del NP_001355072.1:n.534+97_534+98del
NM_001368144.2:c.534+97_534+98del NP_001355073.1:n.534+97_534+98del