Canonical Allele Identifier: CA566694858

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1173597008
• gnomAD v2: 6-32006726-T-TG
• gnomAD v3: 6-32038949-T-TG
• gnomAD v4: 6-32038949-T-TG
• MyVariant Identifiers: chr6:g.32006726_32006727insG (hg19) ; chr6:g.32038949_32038950insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038953dup , CM000668.2:g.32038953dup	GRCh38
NC_000006.11:g.32006730dup , CM000668.1:g.32006730dup	GRCh37
NC_000006.10:g.32114709dup	NCBI36
NG_007941.2:g.5646dup
NG_007941.3:g.5649dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.293-141dup MANE Select	ENSP00000496625.1:n.293-141dup
ENST00000418967.6:c.293-141dup	ENSP00000408860.2:n.293-141dup
ENST00000435122.3:c.203-141dup	ENSP00000415043.2:n.203-141dup
ENST00000464325.5:n.229+142dup
ENST00000466779.5:c.293-122dup	ENSP00000417321.1:n.293-122dup
ENST00000466879.5:n.203dup
ENST00000469053.5:c.203-122dup	ENSP00000418104.1:n.203-122dup
ENST00000471671.4:c.293-141dup	ENSP00000418561.1:n.293-141dup
ENST00000478281.5:c.293-108dup	ENSP00000419572.1:n.293-108dup
ENST00000479074.5:n.351-141dup
ENST00000479730.5:n.448-141dup
ENST00000480027.1:n.487dup
ENST00000483041.5:n.443-122dup
ENST00000486063.5:n.473-141dup
ENST00000488465.1:n.301-141dup
NM_000500.7:c.293-141dup	NP_000491.4:n.293-141dup
NM_001128590.3:c.203-141dup	NP_001122062.3:n.203-141dup
XM_011514314.1:c.-132-122dup	XP_011512616.1:n.-132-122dup
NM_000500.9:c.293-141dup MANE Select	NP_000491.4:n.293-141dup
NM_001368143.1:c.-132-122dup	NP_001355072.1:n.-132-122dup
NM_001368144.1:c.-132-122dup	NP_001355073.1:n.-132-122dup
NM_001128590.4:c.203-141dup	NP_001122062.3:n.203-141dup
NM_001368143.2:c.-132-122dup	NP_001355072.1:n.-132-122dup
NM_001368144.2:c.-132-122dup	NP_001355073.1:n.-132-122dup