Canonical Allele Identifier: CA2678088403

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039592-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039597del , CM000668.2:g.32039597del	GRCh38
NC_000006.11:g.32007374del , CM000668.1:g.32007374del	GRCh37
NC_000006.10:g.32115353del	NCBI36
NG_007941.2:g.6290del
NG_008337.2:g.74782del
NG_007941.3:g.6293del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.601del MANE Select	ENSP00000496625.1:p.Thr201ProfsTer12
ENST00000418967.6:c.601del	ENSP00000408860.2:p.Thr201ProfsTer12
ENST00000435122.3:c.511del	ENSP00000415043.2:p.Thr171ProfsTer12
ENST00000462278.1:n.189del
ENST00000464325.5:n.522del
ENST00000466779.5:c.*293del	ENSP00000417321.1:n.*293del
ENST00000466879.5:n.652del
ENST00000469053.5:c.*293del	ENSP00000418104.1:n.*293del
ENST00000471671.4:c.562del	ENSP00000418561.1:p.Thr188ProfsTer?
ENST00000479074.5:n.659del
ENST00000479730.5:n.717del
ENST00000483041.5:n.770del
ENST00000486063.5:n.781del
NM_000500.7:c.601del	NP_000491.4:p.Thr201ProfsTer12
NM_001128590.3:c.511del	NP_001122062.3:p.Thr171ProfsTer12
XM_011514314.1:c.196del	XP_011512616.1:p.Thr66ProfsTer12
NM_000500.9:c.601del MANE Select	NP_000491.4:p.Thr201ProfsTer12
NM_001368143.1:c.196del	NP_001355072.1:p.Thr66ProfsTer12
NM_001368144.1:c.196del	NP_001355073.1:p.Thr66ProfsTer12
NM_001128590.4:c.511del	NP_001122062.3:p.Thr171ProfsTer12
NM_001368143.2:c.196del	NP_001355072.1:p.Thr66ProfsTer12
NM_001368144.2:c.196del	NP_001355073.1:p.Thr66ProfsTer12