Canonical Allele Identifier: CA1619397467

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040431_32040448delinsTAGACCACGAACTGGGCC , CM000668.2:g.32040431_32040448delinsTAGACCACGAACTGGGCC	GRCh38
NC_000006.11:g.32008208_32008225delinsTAGACCACGAACTGGGCC , CM000668.1:g.32008208_32008225delinsTAGACCACGAACTGGGCC	GRCh37
NC_000006.10:g.32116187_32116204delinsTAGACCACGAACTGGGCC	NCBI36
NG_007941.2:g.7124_7141delinsTAGACCACGAACTGGGCC
NG_008337.2:g.73927_73944delinsGGCCCAGTTCGTGGTCTA
NG_007941.3:g.7127_7144delinsTAGACCACGAACTGGGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.965_982delinsTAGACCACGAACTGGGCC MANE Select	ENSP00000496625.1:p.Leu322=
ENST00000418967.6:c.965_982delinsTAGACCACGAACTGGGCC	ENSP00000408860.2:p.Leu322=
ENST00000435122.3:c.875_892delinsTAGACCACGAACTGGGCC	ENSP00000415043.2:p.Leu292=
ENST00000479074.5:n.1023_1040delinsTAGACCACGAACTGGGCC
ENST00000479730.5:n.1081_1098delinsTAGACCACGAACTGGGCC
ENST00000483041.5:n.1134_1151delinsTAGACCACGAACTGGGCC
ENST00000486063.5:n.944_961delinsTAGACCACGAACTGGGCC
NM_000500.7:c.965_982delinsTAGACCACGAACTGGGCC	NP_000491.4:p.Leu322=
NM_001128590.3:c.875_892delinsTAGACCACGAACTGGGCC	NP_001122062.3:p.Leu292=
XM_011514314.1:c.560_577delinsTAGACCACGAACTGGGCC	XP_011512616.1:p.Leu187=
NM_000500.9:c.965_982delinsTAGACCACGAACTGGGCC MANE Select	NP_000491.4:p.Leu322=
NM_001368143.1:c.560_577delinsTAGACCACGAACTGGGCC	NP_001355072.1:p.Leu187=
NM_001368144.1:c.560_577delinsTAGACCACGAACTGGGCC	NP_001355073.1:p.Leu187=
NM_001128590.4:c.875_892delinsTAGACCACGAACTGGGCC	NP_001122062.3:p.Leu292=
NM_001368143.2:c.560_577delinsTAGACCACGAACTGGGCC	NP_001355072.1:p.Leu187=
NM_001368144.2:c.560_577delinsTAGACCACGAACTGGGCC	NP_001355073.1:p.Leu187=