Canonical Allele Identifier: CA2845774966

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040188_32040189dup , CM000668.2:g.32040188_32040189dup	GRCh38
NC_000006.11:g.32007965_32007966dup , CM000668.1:g.32007965_32007966dup	GRCh37
NC_000006.10:g.32115944_32115945dup	NCBI36
NG_007941.2:g.6881_6882dup
NG_008337.2:g.74191_74192dup
NG_007941.3:g.6884_6885dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.922_923dup MANE Select	ENSP00000496625.1:p.Leu308PhefsTer16
ENST00000418967.6:c.922_923dup	ENSP00000408860.2:p.Leu308PhefsTer16
ENST00000435122.3:c.832_833dup	ENSP00000415043.2:p.Leu278PhefsTer16
ENST00000479074.5:n.980_981dup
ENST00000479730.5:n.1038_1039dup
ENST00000483041.5:n.1091_1092dup
ENST00000486063.5:n.919-218_919-217dup
NM_000500.7:c.922_923dup	NP_000491.4:p.Leu308PhefsTer16
NM_001128590.3:c.832_833dup	NP_001122062.3:p.Leu278PhefsTer16
XM_011514314.1:c.517_518dup	XP_011512616.1:p.Leu173PhefsTer16
NM_000500.9:c.922_923dup MANE Select	NP_000491.4:p.Leu308PhefsTer16
NM_001368143.1:c.517_518dup	NP_001355072.1:p.Leu173PhefsTer16
NM_001368144.1:c.517_518dup	NP_001355073.1:p.Leu173PhefsTer16
NM_001128590.4:c.832_833dup	NP_001122062.3:p.Leu278PhefsTer16
NM_001368143.2:c.517_518dup	NP_001355072.1:p.Leu173PhefsTer16
NM_001368144.2:c.517_518dup	NP_001355073.1:p.Leu173PhefsTer16