Canonical Allele Identifier: CA2678088801

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039957-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039959dup , CM000668.2:g.32039959dup	GRCh38
NC_000006.11:g.32007736dup , CM000668.1:g.32007736dup	GRCh37
NC_000006.10:g.32115715dup	NCBI36
NG_007941.2:g.6652dup
NG_008337.2:g.74417dup
NG_007941.3:g.6655dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.739-46dup MANE Select	ENSP00000496625.1:n.739-46dup
ENST00000418967.6:c.739-46dup	ENSP00000408860.2:n.739-46dup
ENST00000435122.3:c.649-46dup	ENSP00000415043.2:n.649-46dup
ENST00000462278.1:n.551dup
ENST00000479074.5:n.797-46dup
ENST00000479730.5:n.855-46dup
ENST00000483041.5:n.908-46dup
ENST00000486063.5:n.918+124dup
NM_000500.7:c.739-46dup	NP_000491.4:n.739-46dup
NM_001128590.3:c.649-46dup	NP_001122062.3:n.649-46dup
XM_011514314.1:c.334-46dup	XP_011512616.1:n.334-46dup
NM_000500.9:c.739-46dup MANE Select	NP_000491.4:n.739-46dup
NM_001368143.1:c.334-46dup	NP_001355072.1:n.334-46dup
NM_001368144.1:c.334-46dup	NP_001355073.1:n.334-46dup
NM_001128590.4:c.649-46dup	NP_001122062.3:n.649-46dup
NM_001368143.2:c.334-46dup	NP_001355072.1:n.334-46dup
NM_001368144.2:c.334-46dup	NP_001355073.1:n.334-46dup