Canonical Allele Identifier: CA3031324732

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040092del , CM000668.2:g.32040092del	GRCh38
NC_000006.11:g.32007869del , CM000668.1:g.32007869del	GRCh37
NC_000006.10:g.32115848del	NCBI36
NG_007941.2:g.6785del
NG_008337.2:g.74283del
NG_007941.3:g.6788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.826del MANE Select	ENSP00000496625.1:p.Gln276SerfsTer15
ENST00000418967.6:c.826del	ENSP00000408860.2:p.Gln276SerfsTer15
ENST00000435122.3:c.736del	ENSP00000415043.2:p.Gln246SerfsTer15
ENST00000479074.5:n.884del
ENST00000479730.5:n.942del
ENST00000483041.5:n.995del
ENST00000486063.5:n.918+257del
NM_000500.7:c.826del	NP_000491.4:p.Gln276SerfsTer15
NM_001128590.3:c.736del	NP_001122062.3:p.Gln246SerfsTer15
XM_011514314.1:c.421del	XP_011512616.1:p.Gln141SerfsTer15
NM_000500.9:c.826del MANE Select	NP_000491.4:p.Gln276SerfsTer15
NM_001368143.1:c.421del	NP_001355072.1:p.Gln141SerfsTer15
NM_001368144.1:c.421del	NP_001355073.1:p.Gln141SerfsTer15
NM_001128590.4:c.736del	NP_001122062.3:p.Gln246SerfsTer15
NM_001368143.2:c.421del	NP_001355072.1:p.Gln141SerfsTer15
NM_001368144.2:c.421del	NP_001355073.1:p.Gln141SerfsTer15