Canonical Allele Identifier: CA566693896

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1310457908
• gnomAD v2: 6-32008712-TG-T
• gnomAD v4: 6-32040935-TG-T
• MyVariant Identifiers: chr6:g.32008713del (hg19) ; chr6:g.32040936del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040938del , CM000668.2:g.32040938del	GRCh38
NC_000006.11:g.32008715del , CM000668.1:g.32008715del	GRCh37
NC_000006.10:g.32116694del	NCBI36
NG_007941.2:g.7631del
NG_008337.2:g.73439del
NG_007941.3:g.7634del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1292del MANE Select	ENSP00000496625.1:p.Gly431AlafsTer13
ENST00000418967.6:c.1292del	ENSP00000408860.2:p.Gly431AlafsTer13
ENST00000435122.3:c.1202del	ENSP00000415043.2:p.Gly401AlafsTer13
ENST00000479074.5:n.1433del
ENST00000479730.5:n.1408del
ENST00000483041.5:n.1461del
ENST00000486063.5:n.1271del
NM_000500.7:c.1292del	NP_000491.4:p.Gly431AlafsTer13
NM_001128590.3:c.1202del	NP_001122062.3:p.Gly401AlafsTer13
XM_011514314.1:c.887del	XP_011512616.1:p.Gly296AlafsTer13
NM_000500.9:c.1292del MANE Select	NP_000491.4:p.Gly431AlafsTer13
NM_001368143.1:c.887del	NP_001355072.1:p.Gly296AlafsTer13
NM_001368144.1:c.887del	NP_001355073.1:p.Gly296AlafsTer13
NM_001128590.4:c.1202del	NP_001122062.3:p.Gly401AlafsTer13
NM_001368143.2:c.887del	NP_001355072.1:p.Gly296AlafsTer13
NM_001368144.2:c.887del	NP_001355073.1:p.Gly296AlafsTer13