Canonical Allele Identifier: CA2770519645

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039139del , CM000668.2:g.32039139del	GRCh38
NC_000006.11:g.32006916del , CM000668.1:g.32006916del	GRCh37
NC_000006.10:g.32114895del	NCBI36
NG_007941.2:g.5832del
NG_007941.3:g.5835del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.338del MANE Select	ENSP00000496625.1:p.Tyr113SerfsTer?
ENST00000418967.6:c.338del	ENSP00000408860.2:p.Tyr113SerfsTer?
ENST00000435122.3:c.248del	ENSP00000415043.2:p.Tyr83SerfsTer?
ENST00000464325.5:n.259del
ENST00000466779.5:c.*30del	ENSP00000417321.1:n.*30del
ENST00000466879.5:n.389del
ENST00000469053.5:c.*30del	ENSP00000418104.1:n.*30del
ENST00000471671.4:c.338del	ENSP00000418561.1:p.Tyr113SerfsTer?
ENST00000478281.5:c.371del	ENSP00000419572.1:p.Tyr124SerfsTer?
ENST00000479074.5:n.396del
ENST00000479730.5:n.493del
ENST00000483041.5:n.507del
ENST00000486063.5:n.518del
ENST00000488465.1:n.346del
NM_000500.7:c.338del	NP_000491.4:p.Tyr113SerfsTer?
NM_001128590.3:c.248del	NP_001122062.3:p.Tyr83SerfsTer?
XM_011514314.1:c.-68del	XP_011512616.1:n.-68del
NM_000500.9:c.338del MANE Select	NP_000491.4:p.Tyr113SerfsTer?
NM_001368143.1:c.-68del	NP_001355072.1:n.-68del
NM_001368144.1:c.-68del	NP_001355073.1:n.-68del
NM_001128590.4:c.248del	NP_001122062.3:p.Tyr83SerfsTer?
NM_001368143.2:c.-68del	NP_001355072.1:n.-68del
NM_001368144.2:c.-68del	NP_001355073.1:n.-68del