Canonical Allele Identifier: CA566694922

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1291434767
• gnomAD v2: 6-32008005-AG-A
• gnomAD v4: 6-32040228-AG-A
• MyVariant Identifiers: chr6:g.32008006del (hg19) ; chr6:g.32040229del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040230del , CM000668.2:g.32040230del	GRCh38
NC_000006.11:g.32008007del , CM000668.1:g.32008007del	GRCh37
NC_000006.10:g.32115986del	NCBI36
NG_007941.2:g.6923del
NG_008337.2:g.74146del
NG_007941.3:g.6926del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.939+25del MANE Select	ENSP00000496625.1:n.939+25del
ENST00000418967.6:c.939+25del	ENSP00000408860.2:n.939+25del
ENST00000435122.3:c.849+25del	ENSP00000415043.2:n.849+25del
ENST00000479074.5:n.997+25del
ENST00000479730.5:n.1055+25del
ENST00000483041.5:n.1108+25del
ENST00000486063.5:n.919-176del
NM_000500.7:c.939+25del	NP_000491.4:n.939+25del
NM_001128590.3:c.849+25del	NP_001122062.3:n.849+25del
XM_011514314.1:c.534+25del	XP_011512616.1:n.534+25del
NM_000500.9:c.939+25del MANE Select	NP_000491.4:n.939+25del
NM_001368143.1:c.534+25del	NP_001355072.1:n.534+25del
NM_001368144.1:c.534+25del	NP_001355073.1:n.534+25del
NM_001128590.4:c.849+25del	NP_001122062.3:n.849+25del
NM_001368143.2:c.534+25del	NP_001355072.1:n.534+25del
NM_001368144.2:c.534+25del	NP_001355073.1:n.534+25del