Canonical Allele Identifier: CA915944180

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 623473
• ClinVar RCV Id: RCV000850239
• dbSNP Id: rs1582298980

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038442dup , CM000668.2:g.32038442dup	GRCh38
NC_000006.11:g.32006219dup , CM000668.1:g.32006219dup	GRCh37
NC_000006.10:g.32114198dup	NCBI36
NG_007941.2:g.5135dup
NG_007941.3:g.5138dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.20dup MANE Select	ENSP00000496625.1:p.Leu8AlafsTer?
ENST00000418967.6:c.20dup	ENSP00000408860.2:p.Leu8AlafsTer?
ENST00000435122.3:c.20dup	ENSP00000415043.2:p.Leu8AlafsTer?
ENST00000466779.5:c.20dup	ENSP00000417321.1:p.Leu8AlafsTer?
ENST00000469053.5:c.20dup	ENSP00000418104.1:p.Leu8AlafsTer?
ENST00000471671.4:c.20dup	ENSP00000418561.1:p.Leu8AlafsTer?
ENST00000478281.5:c.20dup	ENSP00000419572.1:p.Leu8AlafsTer?
ENST00000479074.5:n.78dup
ENST00000479730.5:n.78dup
ENST00000480027.1:n.73dup
ENST00000483041.5:n.73dup
ENST00000486063.5:n.103dup
ENST00000488465.1:n.28dup
NM_000500.7:c.20dup	NP_000491.4:p.Leu8AlafsTer?
NM_001128590.3:c.20dup	NP_001122062.3:p.Leu8AlafsTer?
XM_011514314.1:c.-405dup	XP_011512616.1:n.-405dup
NM_000500.9:c.20dup MANE Select	NP_000491.4:p.Leu8AlafsTer?
NM_001368143.1:c.-405dup	NP_001355072.1:n.-405dup
NM_001368144.1:c.-315dup	NP_001355073.1:n.-315dup
NM_001128590.4:c.20dup	NP_001122062.3:p.Leu8AlafsTer?
NM_001368143.2:c.-405dup	NP_001355072.1:n.-405dup
NM_001368144.2:c.-315dup	NP_001355073.1:n.-315dup