Canonical Allele Identifier: CA2578618010

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039425_32039427del , CM000668.2:g.32039425_32039427del	GRCh38
NC_000006.11:g.32007202_32007204del , CM000668.1:g.32007202_32007204del	GRCh37
NC_000006.10:g.32115181_32115183del	NCBI36
NG_007941.2:g.6118_6120del
NG_008337.2:g.74952_74954del
NG_007941.3:g.6121_6123del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.517_519del MANE Select	ENSP00000496625.1:p.Ile173del
ENST00000418967.6:c.517_519del	ENSP00000408860.2:p.Ile173del
ENST00000435122.3:c.427_429del	ENSP00000415043.2:p.Ile143del
ENST00000462278.1:n.105_107del
ENST00000464325.5:n.438_440del
ENST00000466779.5:c.*209_*211del	ENSP00000417321.1:n.*209_*211del
ENST00000466879.5:n.568_570del
ENST00000469053.5:c.*209_*211del	ENSP00000418104.1:n.*209_*211del
ENST00000471671.4:c.517_519del	ENSP00000418561.1:p.Ile173del
ENST00000478281.5:c.550_552del	ENSP00000419572.1:p.Ile184del
ENST00000479074.5:n.575_577del
ENST00000479730.5:n.672_674del
ENST00000483041.5:n.686_688del
ENST00000486063.5:n.697_699del
ENST00000488465.1:n.525_527del
NM_000500.7:c.517_519del	NP_000491.4:p.Ile173del
NM_001128590.3:c.427_429del	NP_001122062.3:p.Ile143del
XM_011514314.1:c.112_114del	XP_011512616.1:p.Ile38del
NM_000500.9:c.517_519del MANE Select	NP_000491.4:p.Ile173del
NM_001368143.1:c.112_114del	NP_001355072.1:p.Ile38del
NM_001368144.1:c.112_114del	NP_001355073.1:p.Ile38del
NM_001128590.4:c.427_429del	NP_001122062.3:p.Ile143del
NM_001368143.2:c.112_114del	NP_001355072.1:p.Ile38del
NM_001368144.2:c.112_114del	NP_001355073.1:p.Ile38del