Canonical Allele Identifier: CA1619397227

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039908_32039910delinsGGC , CM000668.2:g.32039908_32039910delinsGGC	GRCh38
NC_000006.11:g.32007685_32007687delinsGGC , CM000668.1:g.32007685_32007687delinsGGC	GRCh37
NC_000006.10:g.32115664_32115666delinsGGC	NCBI36
NG_007941.2:g.6601_6603delinsGGC
NG_008337.2:g.74465_74467delinsGCC
NG_007941.3:g.6604_6606delinsGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.738+73_738+75delinsGGC MANE Select	ENSP00000496625.1:n.738+73_738+75delinsGGC
ENST00000418967.6:c.738+73_738+75delinsGGC	ENSP00000408860.2:n.738+73_738+75delinsGGC
ENST00000435122.3:c.648+73_648+75delinsGGC	ENSP00000415043.2:n.648+73_648+75delinsGGC
ENST00000462278.1:n.500_502delinsGGC
ENST00000479074.5:n.796+73_796+75delinsGGC
ENST00000479730.5:n.854+73_854+75delinsGGC
ENST00000483041.5:n.907+73_907+75delinsGGC
ENST00000486063.5:n.918+73_918+75delinsGGC
NM_000500.7:c.738+73_738+75delinsGGC	NP_000491.4:n.738+73_738+75delinsGGC
NM_001128590.3:c.648+73_648+75delinsGGC	NP_001122062.3:n.648+73_648+75delinsGGC
XM_011514314.1:c.333+73_333+75delinsGGC	XP_011512616.1:n.333+73_333+75delinsGGC
NM_000500.9:c.738+73_738+75delinsGGC MANE Select	NP_000491.4:n.738+73_738+75delinsGGC
NM_001368143.1:c.333+73_333+75delinsGGC	NP_001355072.1:n.333+73_333+75delinsGGC
NM_001368144.1:c.333+73_333+75delinsGGC	NP_001355073.1:n.333+73_333+75delinsGGC
NM_001128590.4:c.648+73_648+75delinsGGC	NP_001122062.3:n.648+73_648+75delinsGGC
NM_001368143.2:c.333+73_333+75delinsGGC	NP_001355072.1:n.333+73_333+75delinsGGC
NM_001368144.2:c.333+73_333+75delinsGGC	NP_001355073.1:n.333+73_333+75delinsGGC