Canonical Allele Identifier: CA566694945

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1349401321
• gnomAD v2: 6-32007011-CAGG-C
• gnomAD v4: 6-32039234-CAGG-C
• MyVariant Identifiers: chr6:g.32007012_32007014del (hg19) ; chr6:g.32039235_32039237del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039237_32039239del , CM000668.2:g.32039237_32039239del	GRCh38
NC_000006.11:g.32007014_32007016del , CM000668.1:g.32007014_32007016del	GRCh37
NC_000006.10:g.32114993_32114995del	NCBI36
NG_007941.2:g.5930_5932del
NG_008337.2:g.75138_75140del
NG_007941.3:g.5933_5935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.436_438del MANE Select	ENSP00000496625.1:p.Glu146del
ENST00000418967.6:c.436_438del	ENSP00000408860.2:p.Glu146del
ENST00000435122.3:c.346_348del	ENSP00000415043.2:p.Glu116del
ENST00000462278.1:n.24_26del
ENST00000464325.5:n.357_359del
ENST00000466779.5:c.*128_*130del	ENSP00000417321.1:n.*128_*130del
ENST00000466879.5:n.487_489del
ENST00000469053.5:c.*128_*130del	ENSP00000418104.1:n.*128_*130del
ENST00000471671.4:c.436_438del	ENSP00000418561.1:p.Glu146del
ENST00000478281.5:c.469_471del	ENSP00000419572.1:p.Glu157del
ENST00000479074.5:n.494_496del
ENST00000479730.5:n.591_593del
ENST00000483041.5:n.605_607del
ENST00000486063.5:n.616_618del
ENST00000488465.1:n.444_446del
NM_000500.7:c.436_438del	NP_000491.4:p.Glu146del
NM_001128590.3:c.346_348del	NP_001122062.3:p.Glu116del
XM_011514314.1:c.31_33del	XP_011512616.1:p.Glu11del
NM_000500.9:c.436_438del MANE Select	NP_000491.4:p.Glu146del
NM_001368143.1:c.31_33del	NP_001355072.1:p.Glu11del
NM_001368144.1:c.31_33del	NP_001355073.1:p.Glu11del
NM_001128590.4:c.346_348del	NP_001122062.3:p.Glu116del
NM_001368143.2:c.31_33del	NP_001355072.1:p.Glu11del
NM_001368144.2:c.31_33del	NP_001355073.1:p.Glu11del