Canonical Allele Identifier: CA823930915

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1423829863
• gnomAD v3: 6-32039951-CTG-C
• gnomAD v4: 6-32039951-CTG-C
• MyVariant Identifiers: chr6:g.32007729_32007730del (hg19) ; chr6:g.32039952_32039953del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039953_32039954del , CM000668.2:g.32039953_32039954del	GRCh38
NC_000006.11:g.32007730_32007731del , CM000668.1:g.32007730_32007731del	GRCh37
NC_000006.10:g.32115709_32115710del	NCBI36
NG_007941.2:g.6646_6647del
NG_008337.2:g.74422_74423del
NG_007941.3:g.6649_6650del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.739-52_739-51del MANE Select	ENSP00000496625.1:n.739-52_739-51del
ENST00000418967.6:c.739-52_739-51del	ENSP00000408860.2:n.739-52_739-51del
ENST00000435122.3:c.649-52_649-51del	ENSP00000415043.2:n.649-52_649-51del
ENST00000462278.1:n.545_546del
ENST00000479074.5:n.797-52_797-51del
ENST00000479730.5:n.855-52_855-51del
ENST00000483041.5:n.908-52_908-51del
ENST00000486063.5:n.918+118_918+119del
NM_000500.7:c.739-52_739-51del	NP_000491.4:n.739-52_739-51del
NM_001128590.3:c.649-52_649-51del	NP_001122062.3:n.649-52_649-51del
XM_011514314.1:c.334-52_334-51del	XP_011512616.1:n.334-52_334-51del
NM_000500.9:c.739-52_739-51del MANE Select	NP_000491.4:n.739-52_739-51del
NM_001368143.1:c.334-52_334-51del	NP_001355072.1:n.334-52_334-51del
NM_001368144.1:c.334-52_334-51del	NP_001355073.1:n.334-52_334-51del
NM_001128590.4:c.649-52_649-51del	NP_001122062.3:n.649-52_649-51del
NM_001368143.2:c.334-52_334-51del	NP_001355072.1:n.334-52_334-51del
NM_001368144.2:c.334-52_334-51del	NP_001355073.1:n.334-52_334-51del