Canonical Allele Identifier: CA3732729

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 800608
• ClinVar RCV Id: RCV000984586 ; RCV001269786
• dbSNP Id: rs779791105
• ExAC: 6:32008869 G / GC
• gnomAD v2: 6-32008869-G-GC
• gnomAD v4: 6-32041092-G-GC
• MyVariant Identifiers: chr6:g.32008869_32008870insC (hg19) ; chr6:g.32041092_32041093insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041096dup , CM000668.2:g.32041096dup	GRCh38
NC_000006.11:g.32008873dup , CM000668.1:g.32008873dup	GRCh37
NC_000006.10:g.32116852dup	NCBI36
NG_007941.2:g.7789dup
NG_008337.2:g.73282dup
NG_007941.3:g.7792dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1450dup MANE Select	ENSP00000496625.1:p.Arg484ProfsTer?
ENST00000418967.6:c.1450dup	ENSP00000408860.2:p.Arg484ProfsTer?
ENST00000435122.3:c.1360dup	ENSP00000415043.2:p.Arg454ProfsTer?
ENST00000479074.5:n.1591dup
ENST00000479730.5:n.1566dup
ENST00000483041.5:n.1619dup
ENST00000486063.5:n.1429dup
NM_000500.7:c.1450dup	NP_000491.4:p.Arg484ProfsTer?
NM_001128590.3:c.1360dup	NP_001122062.3:p.Arg454ProfsTer?
XM_011514314.1:c.1045dup	XP_011512616.1:p.Arg349ProfsTer?
NM_000500.9:c.1450dup MANE Select	NP_000491.4:p.Arg484ProfsTer?
NM_001368143.1:c.1045dup	NP_001355072.1:p.Arg349ProfsTer?
NM_001368144.1:c.1045dup	NP_001355073.1:p.Arg349ProfsTer?
NM_001128590.4:c.1360dup	NP_001122062.3:p.Arg454ProfsTer?
NM_001368143.2:c.1045dup	NP_001355072.1:p.Arg349ProfsTer?
NM_001368144.2:c.1045dup	NP_001355073.1:p.Arg349ProfsTer?