Canonical Allele Identifier: CA645545254

Gene: CYP21A2

Linked Data

• COSMIC: COSM5835187

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038467del , CM000668.2:g.32038467del	GRCh38
NC_000006.11:g.32006244del , CM000668.1:g.32006244del	GRCh37
NC_000006.10:g.32114223del	NCBI36
NG_007941.2:g.5160del
NG_007941.3:g.5163del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.45del MANE Select	ENSP00000496625.1:p.Ala16ProfsTer?
ENST00000418967.6:c.45del	ENSP00000408860.2:p.Ala16ProfsTer?
ENST00000435122.3:c.45del	ENSP00000415043.2:p.Ala16ProfsTer?
ENST00000466779.5:c.45del	ENSP00000417321.1:p.Ala16ProfsTer?
ENST00000469053.5:c.45del	ENSP00000418104.1:p.Ala16ProfsTer?
ENST00000471671.4:c.45del	ENSP00000418561.1:p.Ala16ProfsTer?
ENST00000478281.5:c.45del	ENSP00000419572.1:p.Ala16ProfsTer?
ENST00000479074.5:n.103del
ENST00000479730.5:n.103del
ENST00000480027.1:n.98del
ENST00000483041.5:n.98del
ENST00000486063.5:n.128del
ENST00000488465.1:n.53del
NM_000500.7:c.45del	NP_000491.4:p.Ala16ProfsTer?
NM_001128590.3:c.45del	NP_001122062.3:p.Ala16ProfsTer?
XM_011514314.1:c.-380del	XP_011512616.1:n.-380del
NM_000500.9:c.45del MANE Select	NP_000491.4:p.Ala16ProfsTer?
NM_001368143.1:c.-380del	NP_001355072.1:n.-380del
NM_001368144.1:c.-290del	NP_001355073.1:n.-290del
NM_001128590.4:c.45del	NP_001122062.3:p.Ala16ProfsTer?
NM_001368143.2:c.-380del	NP_001355072.1:n.-380del
NM_001368144.2:c.-290del	NP_001355073.1:n.-290del