Canonical Allele Identifier: CA2578574243

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32041135-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041139del , CM000668.2:g.32041139del	GRCh38
NC_000006.11:g.32008916del , CM000668.1:g.32008916del	GRCh37
NC_000006.10:g.32116895del	NCBI36
NG_007941.2:g.7832del
NG_008337.2:g.73239del
NG_007941.3:g.7835del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.*5del MANE Select	ENSP00000496625.1:n.*5del
ENST00000418967.6:c.*5del	ENSP00000408860.2:n.*5del
ENST00000435122.3:c.*5del	ENSP00000415043.2:n.*5del
ENST00000479074.5:n.1634del
ENST00000479730.5:n.1609del
ENST00000483041.5:n.1662del
ENST00000486063.5:n.1472del
NM_000500.7:c.*5del	NP_000491.4:n.*5del
NM_001128590.3:c.*5del	NP_001122062.3:n.*5del
XM_011514314.1:c.*5del	XP_011512616.1:n.*5del
NM_000500.9:c.*5del MANE Select	NP_000491.4:n.*5del
NM_001368143.1:c.*5del	NP_001355072.1:n.*5del
NM_001368144.1:c.*5del	NP_001355073.1:n.*5del
NM_001128590.4:c.*5del	NP_001122062.3:n.*5del
NM_001368143.2:c.*5del	NP_001355072.1:n.*5del
NM_001368144.2:c.*5del	NP_001355073.1:n.*5del