Canonical Allele Identifier: CA1619396357

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038450_32038452delinsCTG , CM000668.2:g.32038450_32038452delinsCTG	GRCh38
NC_000006.11:g.32006227_32006229delinsCTG , CM000668.1:g.32006227_32006229delinsCTG	GRCh37
NC_000006.10:g.32114206_32114208delinsCTG	NCBI36
NG_007941.2:g.5143_5145delinsCTG
NG_007941.3:g.5146_5148delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.28_30delinsCTG MANE Select	ENSP00000496625.1:p.Leu10=
ENST00000418967.6:c.28_30delinsCTG	ENSP00000408860.2:p.Leu10=
ENST00000435122.3:c.28_30delinsCTG	ENSP00000415043.2:p.Leu10=
ENST00000466779.5:c.28_30delinsCTG	ENSP00000417321.1:p.Leu10=
ENST00000469053.5:c.28_30delinsCTG	ENSP00000418104.1:p.Leu10=
ENST00000471671.4:c.28_30delinsCTG	ENSP00000418561.1:p.Leu10=
ENST00000478281.5:c.28_30delinsCTG	ENSP00000419572.1:p.Leu10=
ENST00000479074.5:n.86_88delinsCTG
ENST00000479730.5:n.86_88delinsCTG
ENST00000480027.1:n.81_83delinsCTG
ENST00000483041.5:n.81_83delinsCTG
ENST00000486063.5:n.111_113delinsCTG
ENST00000488465.1:n.36_38delinsCTG
NM_000500.7:c.28_30delinsCTG	NP_000491.4:p.Leu10=
NM_001128590.3:c.28_30delinsCTG	NP_001122062.3:p.Leu10=
XM_011514314.1:c.-397_-395delinsCTG	XP_011512616.1:n.-397_-395delinsCTG
NM_000500.9:c.28_30delinsCTG MANE Select	NP_000491.4:p.Leu10=
NM_001368143.1:c.-397_-395delinsCTG	NP_001355072.1:n.-397_-395delinsCTG
NM_001368144.1:c.-307_-305delinsCTG	NP_001355073.1:n.-307_-305delinsCTG
NM_001128590.4:c.28_30delinsCTG	NP_001122062.3:p.Leu10=
NM_001368143.2:c.-397_-395delinsCTG	NP_001355072.1:n.-397_-395delinsCTG
NM_001368144.2:c.-307_-305delinsCTG	NP_001355073.1:n.-307_-305delinsCTG