Canonical Allele Identifier: CA1619396436

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038579_32038581delinsACT , CM000668.2:g.32038579_32038581delinsACT	GRCh38
NC_000006.11:g.32006356_32006358delinsACT , CM000668.1:g.32006356_32006358delinsACT	GRCh37
NC_000006.10:g.32114335_32114337delinsACT	NCBI36
NG_007941.2:g.5272_5274delinsACT
NG_007941.3:g.5275_5277delinsACT

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.157_159delinsACT MANE Select	ENSP00000496625.1:p.Thr53=
ENST00000418967.6:c.157_159delinsACT	ENSP00000408860.2:p.Thr53=
ENST00000435122.3:c.157_159delinsACT	ENSP00000415043.2:p.Thr53=
ENST00000466779.5:c.157_159delinsACT	ENSP00000417321.1:p.Thr53=
ENST00000469053.5:c.157_159delinsACT	ENSP00000418104.1:p.Thr53=
ENST00000471671.4:c.157_159delinsACT	ENSP00000418561.1:p.Thr53=
ENST00000478281.5:c.157_159delinsACT	ENSP00000419572.1:p.Thr53=
ENST00000479074.5:n.215_217delinsACT
ENST00000479730.5:n.215_217delinsACT
ENST00000480027.1:n.210_212delinsACT
ENST00000483041.5:n.210_212delinsACT
ENST00000486063.5:n.240_242delinsACT
ENST00000488465.1:n.165_167delinsACT
NM_000500.7:c.157_159delinsACT	NP_000491.4:p.Thr53=
NM_001128590.3:c.157_159delinsACT	NP_001122062.3:p.Thr53=
XM_011514314.1:c.-268_-266delinsACT	XP_011512616.1:n.-268_-266delinsACT
NM_000500.9:c.157_159delinsACT MANE Select	NP_000491.4:p.Thr53=
NM_001368143.1:c.-268_-266delinsACT	NP_001355072.1:n.-268_-266delinsACT
NM_001368144.1:c.-178_-176delinsACT	NP_001355073.1:n.-178_-176delinsACT
NM_001128590.4:c.157_159delinsACT	NP_001122062.3:p.Thr53=
NM_001368143.2:c.-268_-266delinsACT	NP_001355072.1:n.-268_-266delinsACT
NM_001368144.2:c.-178_-176delinsACT	NP_001355073.1:n.-178_-176delinsACT