Canonical Allele Identifier: CA1087498327

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1776033633
• gnomAD v3: 6-32038948-T-TC
• gnomAD v4: 6-32038948-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038948_32038949insC , CM000668.2:g.32038948_32038949insC	GRCh38
NC_000006.11:g.32006725_32006726insC , CM000668.1:g.32006725_32006726insC	GRCh37
NC_000006.10:g.32114704_32114705insC	NCBI36
NG_007941.2:g.5641_5642insC
NG_007941.3:g.5644_5645insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.292+137_292+138insC MANE Select	ENSP00000496625.1:n.292+137_292+138insC
ENST00000418967.6:c.292+137_292+138insC	ENSP00000408860.2:n.292+137_292+138insC
ENST00000435122.3:c.203-146_203-145insC	ENSP00000415043.2:n.203-146_203-145insC
ENST00000464325.5:n.229+137_229+138insC
ENST00000466779.5:c.293-127_293-126insC	ENSP00000417321.1:n.293-127_293-126insC
ENST00000466879.5:n.198_199insC
ENST00000469053.5:c.203-127_203-126insC	ENSP00000418104.1:n.203-127_203-126insC
ENST00000471671.4:c.292+137_292+138insC	ENSP00000418561.1:n.292+137_292+138insC
ENST00000478281.5:c.293-113_293-112insC	ENSP00000419572.1:n.293-113_293-112insC
ENST00000479074.5:n.350+137_350+138insC
ENST00000479730.5:n.447+137_447+138insC
ENST00000480027.1:n.482_483insC
ENST00000483041.5:n.443-127_443-126insC
ENST00000486063.5:n.472+137_472+138insC
ENST00000488465.1:n.300+137_300+138insC
NM_000500.7:c.292+137_292+138insC	NP_000491.4:n.292+137_292+138insC
NM_001128590.3:c.203-146_203-145insC	NP_001122062.3:n.203-146_203-145insC
XM_011514314.1:c.-132-127_-132-126insC	XP_011512616.1:n.-132-127_-132-126insC
NM_000500.9:c.292+137_292+138insC MANE Select	NP_000491.4:n.292+137_292+138insC
NM_001368143.1:c.-132-127_-132-126insC	NP_001355072.1:n.-132-127_-132-126insC
NM_001368144.1:c.-132-127_-132-126insC	NP_001355073.1:n.-132-127_-132-126insC
NM_001128590.4:c.203-146_203-145insC	NP_001122062.3:n.203-146_203-145insC
NM_001368143.2:c.-132-127_-132-126insC	NP_001355072.1:n.-132-127_-132-126insC
NM_001368144.2:c.-132-127_-132-126insC	NP_001355073.1:n.-132-127_-132-126insC