Canonical Allele Identifier: CA2678088396

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32038805-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038807del , CM000668.2:g.32038807del	GRCh38
NC_000006.11:g.32006584del , CM000668.1:g.32006584del	GRCh37
NC_000006.10:g.32114563del	NCBI36
NG_007941.2:g.5500del
NG_007941.3:g.5503del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.288del MANE Select	ENSP00000496625.1:p.Thr97ProfsTer?
ENST00000418967.6:c.288del	ENSP00000408860.2:p.Thr97ProfsTer?
ENST00000435122.3:c.202+183del	ENSP00000415043.2:n.202+183del
ENST00000464325.5:n.225del
ENST00000466779.5:c.288del	ENSP00000417321.1:p.Thr97ProfsTer?
ENST00000466879.5:n.57del
ENST00000469053.5:c.202+183del	ENSP00000418104.1:n.202+183del
ENST00000471671.4:c.288del	ENSP00000418561.1:p.Thr97ProfsTer?
ENST00000478281.5:c.288del	ENSP00000419572.1:p.Thr97ProfsTer?
ENST00000479074.5:n.346del
ENST00000479730.5:n.443del
ENST00000480027.1:n.341del
ENST00000483041.5:n.438del
ENST00000486063.5:n.468del
ENST00000488465.1:n.296del
NM_000500.7:c.288del	NP_000491.4:p.Thr97ProfsTer?
NM_001128590.3:c.202+183del	NP_001122062.3:n.202+183del
XM_011514314.1:c.-137del	XP_011512616.1:n.-137del
NM_000500.9:c.288del MANE Select	NP_000491.4:p.Thr97ProfsTer?
NM_001368143.1:c.-137del	NP_001355072.1:n.-137del
NM_001368144.1:c.-133+183del	NP_001355073.1:n.-133+183del
NM_001128590.4:c.202+183del	NP_001122062.3:n.202+183del
NM_001368143.2:c.-137del	NP_001355072.1:n.-137del
NM_001368144.2:c.-133+183del	NP_001355073.1:n.-133+183del