Canonical Allele Identifier: CA1619397064

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039600_32039601delinsTG , CM000668.2:g.32039600_32039601delinsTG	GRCh38
NC_000006.11:g.32007377_32007378delinsTG , CM000668.1:g.32007377_32007378delinsTG	GRCh37
NC_000006.10:g.32115356_32115357delinsTG	NCBI36
NG_007941.2:g.6293_6294delinsTG
NG_008337.2:g.74774_74775delinsCA
NG_007941.3:g.6296_6297delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.604_605delinsTG MANE Select	ENSP00000496625.1:p.Trp202=
ENST00000418967.6:c.604_605delinsTG	ENSP00000408860.2:p.Trp202=
ENST00000435122.3:c.514_515delinsTG	ENSP00000415043.2:p.Trp172=
ENST00000462278.1:n.192_193delinsTG
ENST00000464325.5:n.525_526delinsTG
ENST00000466779.5:c.*296_*297delinsTG	ENSP00000417321.1:n.*296_*297delinsTG
ENST00000466879.5:n.655_656delinsTG
ENST00000469053.5:c.*296_*297delinsTG	ENSP00000418104.1:n.*296_*297delinsTG
ENST00000471671.4:c.565_566delinsTG	ENSP00000418561.1:p.Trp189=
ENST00000479074.5:n.662_663delinsTG
ENST00000479730.5:n.720_721delinsTG
ENST00000483041.5:n.773_774delinsTG
ENST00000486063.5:n.784_785delinsTG
NM_000500.7:c.604_605delinsTG	NP_000491.4:p.Trp202=
NM_001128590.3:c.514_515delinsTG	NP_001122062.3:p.Trp172=
XM_011514314.1:c.199_200delinsTG	XP_011512616.1:p.Trp67=
NM_000500.9:c.604_605delinsTG MANE Select	NP_000491.4:p.Trp202=
NM_001368143.1:c.199_200delinsTG	NP_001355072.1:p.Trp67=
NM_001368144.1:c.199_200delinsTG	NP_001355073.1:p.Trp67=
NM_001128590.4:c.514_515delinsTG	NP_001122062.3:p.Trp172=
NM_001368143.2:c.199_200delinsTG	NP_001355072.1:p.Trp67=
NM_001368144.2:c.199_200delinsTG	NP_001355073.1:p.Trp67=