Canonical Allele Identifier: CA1619397465

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040429_32040447delinsGCTAGACCACGAACTGGGC , CM000668.2:g.32040429_32040447delinsGCTAGACCACGAACTGGGC	GRCh38
NC_000006.11:g.32008206_32008224delinsGCTAGACCACGAACTGGGC , CM000668.1:g.32008206_32008224delinsGCTAGACCACGAACTGGGC	GRCh37
NC_000006.10:g.32116185_32116203delinsGCTAGACCACGAACTGGGC	NCBI36
NG_007941.2:g.7122_7140delinsGCTAGACCACGAACTGGGC
NG_008337.2:g.73928_73946delinsGCCCAGTTCGTGGTCTAGC
NG_007941.3:g.7125_7143delinsGCTAGACCACGAACTGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.963_981delinsGCTAGACCACGAACTGGGC MANE Select	ENSP00000496625.1:p.Glu321=
ENST00000418967.6:c.963_981delinsGCTAGACCACGAACTGGGC	ENSP00000408860.2:p.Glu321=
ENST00000435122.3:c.873_891delinsGCTAGACCACGAACTGGGC	ENSP00000415043.2:p.Glu291=
ENST00000479074.5:n.1021_1039delinsGCTAGACCACGAACTGGGC
ENST00000479730.5:n.1079_1097delinsGCTAGACCACGAACTGGGC
ENST00000483041.5:n.1132_1150delinsGCTAGACCACGAACTGGGC
ENST00000486063.5:n.942_960delinsGCTAGACCACGAACTGGGC
NM_000500.7:c.963_981delinsGCTAGACCACGAACTGGGC	NP_000491.4:p.Glu321=
NM_001128590.3:c.873_891delinsGCTAGACCACGAACTGGGC	NP_001122062.3:p.Glu291=
XM_011514314.1:c.558_576delinsGCTAGACCACGAACTGGGC	XP_011512616.1:p.Glu186=
NM_000500.9:c.963_981delinsGCTAGACCACGAACTGGGC MANE Select	NP_000491.4:p.Glu321=
NM_001368143.1:c.558_576delinsGCTAGACCACGAACTGGGC	NP_001355072.1:p.Glu186=
NM_001368144.1:c.558_576delinsGCTAGACCACGAACTGGGC	NP_001355073.1:p.Glu186=
NM_001128590.4:c.873_891delinsGCTAGACCACGAACTGGGC	NP_001122062.3:p.Glu291=
NM_001368143.2:c.558_576delinsGCTAGACCACGAACTGGGC	NP_001355072.1:p.Glu186=
NM_001368144.2:c.558_576delinsGCTAGACCACGAACTGGGC	NP_001355073.1:p.Glu186=