Canonical Allele Identifier: CA2678089806

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040758-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040758_32040759insC , CM000668.2:g.32040758_32040759insC	GRCh38
NC_000006.11:g.32008535_32008536insC , CM000668.1:g.32008535_32008536insC	GRCh37
NC_000006.10:g.32116514_32116515insC	NCBI36
NG_007941.2:g.7451_7452insC
NG_008337.2:g.73616_73617insG
NG_007941.3:g.7454_7455insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1209_1210insC MANE Select	ENSP00000496625.1:p.Glu404ArgfsTer5
ENST00000418967.6:c.1209_1210insC	ENSP00000408860.2:p.Glu404ArgfsTer5
ENST00000435122.3:c.1119_1120insC	ENSP00000415043.2:p.Glu374ArgfsTer5
ENST00000479074.5:n.1350_1351insC
ENST00000479730.5:n.1325_1326insC
ENST00000483041.5:n.1378_1379insC
ENST00000486063.5:n.1188_1189insC
NM_000500.7:c.1209_1210insC	NP_000491.4:p.Glu404ArgfsTer5
NM_001128590.3:c.1119_1120insC	NP_001122062.3:p.Glu374ArgfsTer5
XM_011514314.1:c.804_805insC	XP_011512616.1:p.Glu269ArgfsTer5
NM_000500.9:c.1209_1210insC MANE Select	NP_000491.4:p.Glu404ArgfsTer5
NM_001368143.1:c.804_805insC	NP_001355072.1:p.Glu269ArgfsTer5
NM_001368144.1:c.804_805insC	NP_001355073.1:p.Glu269ArgfsTer5
NM_001128590.4:c.1119_1120insC	NP_001122062.3:p.Glu374ArgfsTer5
NM_001368143.2:c.804_805insC	NP_001355072.1:p.Glu269ArgfsTer5
NM_001368144.2:c.804_805insC	NP_001355073.1:p.Glu269ArgfsTer5