Canonical Allele Identifier: CA3732529

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 225336
• ClinVar RCV Id: RCV000490453
• dbSNP Id: rs750499484
• ExAC: 6:32007782 GA / G
• gnomAD v2: 6-32007782-GA-G
• gnomAD v3: 6-32040005-GA-G
• gnomAD v4: 6-32040005-GA-G
• MyVariant Identifiers: chr6:g.32007783del (hg19) ; chr6:g.32040006del (hg38)
• PubMed: PMID:12050231

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040006del , CM000668.2:g.32040006del	GRCh38
NC_000006.11:g.32007783del , CM000668.1:g.32007783del	GRCh37
NC_000006.10:g.32115762del	NCBI36
NG_007941.2:g.6699del
NG_008337.2:g.74369del
NG_007941.3:g.6702del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.740del MANE Select	ENSP00000496625.1:p.Glu247GlyfsTer11
ENST00000418967.6:c.740del	ENSP00000408860.2:p.Glu247GlyfsTer11
ENST00000435122.3:c.650del	ENSP00000415043.2:p.Glu217GlyfsTer11
ENST00000479074.5:n.798del
ENST00000479730.5:n.856del
ENST00000483041.5:n.909del
ENST00000486063.5:n.918+171del
NM_000500.7:c.740del	NP_000491.4:p.Glu247GlyfsTer11
NM_001128590.3:c.650del	NP_001122062.3:p.Glu217GlyfsTer11
XM_011514314.1:c.335del	XP_011512616.1:p.Glu112GlyfsTer11
NM_000500.9:c.740del MANE Select	NP_000491.4:p.Glu247GlyfsTer11
NM_001368143.1:c.335del	NP_001355072.1:p.Glu112GlyfsTer11
NM_001368144.1:c.335del	NP_001355073.1:p.Glu112GlyfsTer11
NM_001128590.4:c.650del	NP_001122062.3:p.Glu217GlyfsTer11
NM_001368143.2:c.335del	NP_001355072.1:p.Glu112GlyfsTer11
NM_001368144.2:c.335del	NP_001355073.1:p.Glu112GlyfsTer11