Canonical Allele Identifier: CA2678088926

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040013-CGTGGCAGGCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040018_32040028del , CM000668.2:g.32040018_32040028del	GRCh38
NC_000006.11:g.32007795_32007805del , CM000668.1:g.32007795_32007805del	GRCh37
NC_000006.10:g.32115774_32115784del	NCBI36
NG_007941.2:g.6711_6721del
NG_008337.2:g.74351_74361del
NG_007941.3:g.6714_6724del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.752_762del MANE Select	ENSP00000496625.1:p.Ala251GlufsTer?
ENST00000418967.6:c.752_762del	ENSP00000408860.2:p.Ala251GlufsTer?
ENST00000435122.3:c.662_672del	ENSP00000415043.2:p.Ala221GlufsTer?
ENST00000479074.5:n.810_820del
ENST00000479730.5:n.868_878del
ENST00000483041.5:n.921_931del
ENST00000486063.5:n.918+183_918+193del
NM_000500.7:c.752_762del	NP_000491.4:p.Ala251GlufsTer?
NM_001128590.3:c.662_672del	NP_001122062.3:p.Ala221GlufsTer?
XM_011514314.1:c.347_357del	XP_011512616.1:p.Ala116GlufsTer?
NM_000500.9:c.752_762del MANE Select	NP_000491.4:p.Ala251GlufsTer?
NM_001368143.1:c.347_357del	NP_001355072.1:p.Ala116GlufsTer?
NM_001368144.1:c.347_357del	NP_001355073.1:p.Ala116GlufsTer?
NM_001128590.4:c.662_672del	NP_001122062.3:p.Ala221GlufsTer?
NM_001368143.2:c.347_357del	NP_001355072.1:p.Ala116GlufsTer?
NM_001368144.2:c.347_357del	NP_001355073.1:p.Ala116GlufsTer?