Canonical Allele Identifier: CA915944187

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 800584
• ClinVar RCV Id: RCV000984562
• dbSNP Id: rs1582301904

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32038994_32038995insG , CM000668.2:g.32038994_32038995insG	GRCh38
NC_000006.11:g.32006771_32006772insG , CM000668.1:g.32006771_32006772insG	GRCh37
NC_000006.10:g.32114750_32114751insG	NCBI36
NG_007941.2:g.5687_5688insG
NG_007941.3:g.5690_5691insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.293-100_293-99insG MANE Select	ENSP00000496625.1:n.293-100_293-99insG
ENST00000418967.6:c.293-100_293-99insG	ENSP00000408860.2:n.293-100_293-99insG
ENST00000435122.3:c.203-100_203-99insG	ENSP00000415043.2:n.203-100_203-99insG
ENST00000464325.5:n.230-116_230-115insG
ENST00000466779.5:c.293-81_293-80insG	ENSP00000417321.1:n.293-81_293-80insG
ENST00000466879.5:n.244_245insG
ENST00000469053.5:c.203-81_203-80insG	ENSP00000418104.1:n.203-81_203-80insG
ENST00000471671.4:c.293-100_293-99insG	ENSP00000418561.1:n.293-100_293-99insG
ENST00000478281.5:c.293-67_293-66insG	ENSP00000419572.1:n.293-67_293-66insG
ENST00000479074.5:n.351-100_351-99insG
ENST00000479730.5:n.448-100_448-99insG
ENST00000480027.1:n.528_529insG
ENST00000483041.5:n.443-81_443-80insG
ENST00000486063.5:n.473-100_473-99insG
ENST00000488465.1:n.301-100_301-99insG
NM_000500.7:c.293-100_293-99insG	NP_000491.4:n.293-100_293-99insG
NM_001128590.3:c.203-100_203-99insG	NP_001122062.3:n.203-100_203-99insG
XM_011514314.1:c.-132-81_-132-80insG	XP_011512616.1:n.-132-81_-132-80insG
NM_000500.9:c.293-100_293-99insG MANE Select	NP_000491.4:n.293-100_293-99insG
NM_001368143.1:c.-132-81_-132-80insG	NP_001355072.1:n.-132-81_-132-80insG
NM_001368144.1:c.-132-81_-132-80insG	NP_001355073.1:n.-132-81_-132-80insG
NM_001128590.4:c.203-100_203-99insG	NP_001122062.3:n.203-100_203-99insG
NM_001368143.2:c.-132-81_-132-80insG	NP_001355072.1:n.-132-81_-132-80insG
NM_001368144.2:c.-132-81_-132-80insG	NP_001355073.1:n.-132-81_-132-80insG