Canonical Allele Identifier: CA1087498977

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1776173453
• gnomAD v3: 6-32040038-A-AT
• gnomAD v4: 6-32040038-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040039dup , CM000668.2:g.32040039dup	GRCh38
NC_000006.11:g.32007816dup , CM000668.1:g.32007816dup	GRCh37
NC_000006.10:g.32115795dup	NCBI36
NG_007941.2:g.6732dup
NG_008337.2:g.74336dup
NG_007941.3:g.6735dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.773dup MANE Select	ENSP00000496625.1:p.Met258IlefsTer?
ENST00000418967.6:c.773dup	ENSP00000408860.2:p.Met258IlefsTer?
ENST00000435122.3:c.683dup	ENSP00000415043.2:p.Met228IlefsTer?
ENST00000479074.5:n.831dup
ENST00000479730.5:n.889dup
ENST00000483041.5:n.942dup
ENST00000486063.5:n.918+204dup
NM_000500.7:c.773dup	NP_000491.4:p.Met258IlefsTer?
NM_001128590.3:c.683dup	NP_001122062.3:p.Met228IlefsTer?
XM_011514314.1:c.368dup	XP_011512616.1:p.Met123IlefsTer?
NM_000500.9:c.773dup MANE Select	NP_000491.4:p.Met258IlefsTer?
NM_001368143.1:c.368dup	NP_001355072.1:p.Met123IlefsTer?
NM_001368144.1:c.368dup	NP_001355073.1:p.Met123IlefsTer?
NM_001128590.4:c.683dup	NP_001122062.3:p.Met228IlefsTer?
NM_001368143.2:c.368dup	NP_001355072.1:p.Met123IlefsTer?
NM_001368144.2:c.368dup	NP_001355073.1:p.Met123IlefsTer?