Canonical Allele Identifier: CA1619397300

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040067_32040068delinsGC , CM000668.2:g.32040067_32040068delinsGC	GRCh38
NC_000006.11:g.32007844_32007845delinsGC , CM000668.1:g.32007844_32007845delinsGC	GRCh37
NC_000006.10:g.32115823_32115824delinsGC	NCBI36
NG_007941.2:g.6760_6761delinsGC
NG_008337.2:g.74307_74308delinsGC
NG_007941.3:g.6763_6764delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.801_802delinsGC MANE Select	ENSP00000496625.1:p.Gln267=
ENST00000418967.6:c.801_802delinsGC	ENSP00000408860.2:p.Gln267=
ENST00000435122.3:c.711_712delinsGC	ENSP00000415043.2:p.Gln237=
ENST00000479074.5:n.859_860delinsGC
ENST00000479730.5:n.917_918delinsGC
ENST00000483041.5:n.970_971delinsGC
ENST00000486063.5:n.918+232_918+233delinsGC
NM_000500.7:c.801_802delinsGC	NP_000491.4:p.Gln267=
NM_001128590.3:c.711_712delinsGC	NP_001122062.3:p.Gln237=
XM_011514314.1:c.396_397delinsGC	XP_011512616.1:p.Gln132=
NM_000500.9:c.801_802delinsGC MANE Select	NP_000491.4:p.Gln267=
NM_001368143.1:c.396_397delinsGC	NP_001355072.1:p.Gln132=
NM_001368144.1:c.396_397delinsGC	NP_001355073.1:p.Gln132=
NM_001128590.4:c.711_712delinsGC	NP_001122062.3:p.Gln237=
NM_001368143.2:c.396_397delinsGC	NP_001355072.1:p.Gln132=
NM_001368144.2:c.396_397delinsGC	NP_001355073.1:p.Gln132=