Canonical Allele Identifier: CA2695206150

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038445_32038454del , CM000668.2:g.32038445_32038454del	GRCh38
NC_000006.11:g.32006222_32006231del , CM000668.1:g.32006222_32006231del	GRCh37
NC_000006.10:g.32114201_32114210del	NCBI36
NG_007941.2:g.5138_5147del
NG_007941.3:g.5141_5150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.23_32del MANE Select	ENSP00000496625.1:p.Leu8ProfsTer?
ENST00000418967.6:c.23_32del	ENSP00000408860.2:p.Leu8ProfsTer?
ENST00000435122.3:c.23_32del	ENSP00000415043.2:p.Leu8ProfsTer?
ENST00000466779.5:c.23_32del	ENSP00000417321.1:p.Leu8ProfsTer?
ENST00000469053.5:c.23_32del	ENSP00000418104.1:p.Leu8ProfsTer?
ENST00000471671.4:c.23_32del	ENSP00000418561.1:p.Leu8ProfsTer?
ENST00000478281.5:c.23_32del	ENSP00000419572.1:p.Leu8ProfsTer?
ENST00000479074.5:n.81_90del
ENST00000479730.5:n.81_90del
ENST00000480027.1:n.76_85del
ENST00000483041.5:n.76_85del
ENST00000486063.5:n.106_115del
ENST00000488465.1:n.31_40del
NM_000500.7:c.23_32del	NP_000491.4:p.Leu8ProfsTer?
NM_001128590.3:c.23_32del	NP_001122062.3:p.Leu8ProfsTer?
XM_011514314.1:c.-402_-393del	XP_011512616.1:n.-402_-393del
NM_000500.9:c.23_32del MANE Select	NP_000491.4:p.Leu8ProfsTer?
NM_001368143.1:c.-402_-393del	NP_001355072.1:n.-402_-393del
NM_001368144.1:c.-312_-303del	NP_001355073.1:n.-312_-303del
NM_001128590.4:c.23_32del	NP_001122062.3:p.Leu8ProfsTer?
NM_001368143.2:c.-402_-393del	NP_001355072.1:n.-402_-393del
NM_001368144.2:c.-312_-303del	NP_001355073.1:n.-312_-303del