Canonical Allele Identifier: CA1619396353

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038443_32038444delinsGC , CM000668.2:g.32038443_32038444delinsGC	GRCh38
NC_000006.11:g.32006220_32006221delinsGC , CM000668.1:g.32006220_32006221delinsGC	GRCh37
NC_000006.10:g.32114199_32114200delinsGC	NCBI36
NG_007941.2:g.5136_5137delinsGC
NG_007941.3:g.5139_5140delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.21_22delinsGC MANE Select	ENSP00000496625.1:p.Leu7=
ENST00000418967.6:c.21_22delinsGC	ENSP00000408860.2:p.Leu7=
ENST00000435122.3:c.21_22delinsGC	ENSP00000415043.2:p.Leu7=
ENST00000466779.5:c.21_22delinsGC	ENSP00000417321.1:p.Leu7=
ENST00000469053.5:c.21_22delinsGC	ENSP00000418104.1:p.Leu7=
ENST00000471671.4:c.21_22delinsGC	ENSP00000418561.1:p.Leu7=
ENST00000478281.5:c.21_22delinsGC	ENSP00000419572.1:p.Leu7=
ENST00000479074.5:n.79_80delinsGC
ENST00000479730.5:n.79_80delinsGC
ENST00000480027.1:n.74_75delinsGC
ENST00000483041.5:n.74_75delinsGC
ENST00000486063.5:n.104_105delinsGC
ENST00000488465.1:n.29_30delinsGC
NM_000500.7:c.21_22delinsGC	NP_000491.4:p.Leu7=
NM_001128590.3:c.21_22delinsGC	NP_001122062.3:p.Leu7=
XM_011514314.1:c.-404_-403delinsGC	XP_011512616.1:n.-404_-403delinsGC
NM_000500.9:c.21_22delinsGC MANE Select	NP_000491.4:p.Leu7=
NM_001368143.1:c.-404_-403delinsGC	NP_001355072.1:n.-404_-403delinsGC
NM_001368144.1:c.-314_-313delinsGC	NP_001355073.1:n.-314_-313delinsGC
NM_001128590.4:c.21_22delinsGC	NP_001122062.3:p.Leu7=
NM_001368143.2:c.-404_-403delinsGC	NP_001355072.1:n.-404_-403delinsGC
NM_001368144.2:c.-314_-313delinsGC	NP_001355073.1:n.-314_-313delinsGC