Canonical Allele Identifier: CA2678088297

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32039341-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039342_32039343del , CM000668.2:g.32039342_32039343del	GRCh38
NC_000006.11:g.32007119_32007120del , CM000668.1:g.32007119_32007120del	GRCh37
NC_000006.10:g.32115098_32115099del	NCBI36
NG_007941.2:g.6035_6036del
NG_008337.2:g.75032_75033del
NG_007941.3:g.6038_6039del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.448-14_448-13del MANE Select	ENSP00000496625.1:n.448-14_448-13del
ENST00000418967.6:c.448-14_448-13del	ENSP00000408860.2:n.448-14_448-13del
ENST00000435122.3:c.358-14_358-13del	ENSP00000415043.2:n.358-14_358-13del
ENST00000462278.1:n.36-14_36-13del
ENST00000464325.5:n.369-14_369-13del
ENST00000466779.5:c.*140-14_*140-13del	ENSP00000417321.1:n.*140-14_*140-13del
ENST00000466879.5:n.499-14_499-13del
ENST00000469053.5:c.*140-14_*140-13del	ENSP00000418104.1:n.*140-14_*140-13del
ENST00000471671.4:c.448-14_448-13del	ENSP00000418561.1:n.448-14_448-13del
ENST00000478281.5:c.481-14_481-13del	ENSP00000419572.1:n.481-14_481-13del
ENST00000479074.5:n.506-14_506-13del
ENST00000479730.5:n.603-14_603-13del
ENST00000483041.5:n.617-14_617-13del
ENST00000486063.5:n.628-14_628-13del
ENST00000488465.1:n.456-14_456-13del
NM_000500.7:c.448-14_448-13del	NP_000491.4:n.448-14_448-13del
NM_001128590.3:c.358-14_358-13del	NP_001122062.3:n.358-14_358-13del
XM_011514314.1:c.43-14_43-13del	XP_011512616.1:n.43-14_43-13del
NM_000500.9:c.448-14_448-13del MANE Select	NP_000491.4:n.448-14_448-13del
NM_001368143.1:c.43-14_43-13del	NP_001355072.1:n.43-14_43-13del
NM_001368144.1:c.43-14_43-13del	NP_001355073.1:n.43-14_43-13del
NM_001128590.4:c.358-14_358-13del	NP_001122062.3:n.358-14_358-13del
NM_001368143.2:c.43-14_43-13del	NP_001355072.1:n.43-14_43-13del
NM_001368144.2:c.43-14_43-13del	NP_001355073.1:n.43-14_43-13del