Canonical Allele Identifier: CA1139659473

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 988572
• ClinVar RCV Id: RCV001270009
• dbSNP Id: rs1776193326

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040189_32040190dup , CM000668.2:g.32040189_32040190dup	GRCh38
NC_000006.11:g.32007966_32007967dup , CM000668.1:g.32007966_32007967dup	GRCh37
NC_000006.10:g.32115945_32115946dup	NCBI36
NG_007941.2:g.6882_6883dup
NG_008337.2:g.74185_74186dup
NG_007941.3:g.6885_6886dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.923_924dup MANE Select	ENSP00000496625.1:p.Leu309CysfsTer15
ENST00000418967.6:c.923_924dup	ENSP00000408860.2:p.Leu309CysfsTer15
ENST00000435122.3:c.833_834dup	ENSP00000415043.2:p.Leu279CysfsTer15
ENST00000479074.5:n.981_982dup
ENST00000479730.5:n.1039_1040dup
ENST00000483041.5:n.1092_1093dup
ENST00000486063.5:n.919-217_919-216dup
NM_000500.7:c.923_924dup	NP_000491.4:p.Leu309CysfsTer15
NM_001128590.3:c.833_834dup	NP_001122062.3:p.Leu279CysfsTer15
XM_011514314.1:c.518_519dup	XP_011512616.1:p.Leu174CysfsTer15
NM_000500.9:c.923_924dup MANE Select	NP_000491.4:p.Leu309CysfsTer15
NM_001368143.1:c.518_519dup	NP_001355072.1:p.Leu174CysfsTer15
NM_001368144.1:c.518_519dup	NP_001355073.1:p.Leu174CysfsTer15
NM_001128590.4:c.833_834dup	NP_001122062.3:p.Leu279CysfsTer15
NM_001368143.2:c.518_519dup	NP_001355072.1:p.Leu174CysfsTer15
NM_001368144.2:c.518_519dup	NP_001355073.1:p.Leu174CysfsTer15