Canonical Allele Identifier: CA823930185

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1267756088
• gnomAD v3: 6-32038435-GGCC-G
• gnomAD v4: 6-32038435-GGCC-G
• MyVariant Identifiers: chr6:g.32006213_32006215del (hg19) ; chr6:g.32038436_32038438del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038436_32038438del , CM000668.2:g.32038436_32038438del	GRCh38
NC_000006.11:g.32006213_32006215del , CM000668.1:g.32006213_32006215del	GRCh37
NC_000006.10:g.32114192_32114194del	NCBI36
NG_007941.3:g.5132_5134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.14_16del MANE Select	ENSP00000496625.1:p.Gly5_Leu6delinsVal
ENST00000418967.6:c.14_16del	ENSP00000408860.2:p.Gly5_Leu6delinsVal
ENST00000435122.3:c.14_16del	ENSP00000415043.2:p.Gly5_Leu6delinsVal
ENST00000466779.5:c.14_16del	ENSP00000417321.1:p.Gly5_Leu6delinsVal
ENST00000469053.5:c.14_16del	ENSP00000418104.1:p.Gly5_Leu6delinsVal
ENST00000471671.4:c.14_16del	ENSP00000418561.1:p.Gly5_Leu6delinsVal
ENST00000478281.5:c.14_16del	ENSP00000419572.1:p.Gly5_Leu6delinsVal
ENST00000479074.5:n.72_74del
ENST00000479730.5:n.72_74del
ENST00000480027.1:n.67_69del
ENST00000483041.5:n.67_69del
ENST00000486063.5:n.97_99del
ENST00000488465.1:n.22_24del
NM_000500.7:c.14_16del	NP_000491.4:p.Gly5_Leu6delinsVal
NM_001128590.3:c.14_16del	NP_001122062.3:p.Gly5_Leu6delinsVal
XM_011514314.1:c.-411_-409del	XP_011512616.1:n.-411_-409del
NM_000500.9:c.14_16del MANE Select	NP_000491.4:p.Gly5_Leu6delinsVal
NM_001368143.1:c.-411_-409del	NP_001355072.1:n.-411_-409del
NM_001368144.1:c.-321_-319del	NP_001355073.1:n.-321_-319del
NM_001128590.4:c.14_16del	NP_001122062.3:p.Gly5_Leu6delinsVal
NM_001368143.2:c.-411_-409del	NP_001355072.1:n.-411_-409del
NM_001368144.2:c.-321_-319del	NP_001355073.1:n.-321_-319del