Canonical Allele Identifier: CA2678088993

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039079-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039080del , CM000668.2:g.32039080del	GRCh38
NC_000006.11:g.32006857del , CM000668.1:g.32006857del	GRCh37
NC_000006.10:g.32114836del	NCBI36
NG_007941.2:g.5773del
NG_007941.3:g.5776del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.293-14del MANE Select	ENSP00000496625.1:n.293-14del
ENST00000418967.6:c.293-14del	ENSP00000408860.2:n.293-14del
ENST00000435122.3:c.203-14del	ENSP00000415043.2:n.203-14del
ENST00000464325.5:n.230-30del
ENST00000466779.5:c.298del	ENSP00000417321.1:p.Thr100ProfsTer?
ENST00000466879.5:n.330del
ENST00000469053.5:c.208del	ENSP00000418104.1:p.Thr70ProfsTer?
ENST00000471671.4:c.293-14del	ENSP00000418561.1:n.293-14del
ENST00000478281.5:c.312del	ENSP00000419572.1:p.Pro105LeufsTer?
ENST00000479074.5:n.351-14del
ENST00000479730.5:n.448-14del
ENST00000480027.1:n.614del
ENST00000483041.5:n.448del
ENST00000486063.5:n.473-14del
ENST00000488465.1:n.301-14del
NM_000500.7:c.293-14del	NP_000491.4:n.293-14del
NM_001128590.3:c.203-14del	NP_001122062.3:n.203-14del
XM_011514314.1:c.-127del	XP_011512616.1:n.-127del
NM_000500.9:c.293-14del MANE Select	NP_000491.4:n.293-14del
NM_001368143.1:c.-127del	NP_001355072.1:n.-127del
NM_001368144.1:c.-127del	NP_001355073.1:n.-127del
NM_001128590.4:c.203-14del	NP_001122062.3:n.203-14del
NM_001368143.2:c.-127del	NP_001355072.1:n.-127del
NM_001368144.2:c.-127del	NP_001355073.1:n.-127del