Canonical Allele Identifier: CA2695206158

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039105_32039106delinsAA , CM000668.2:g.32039105_32039106delinsAA	GRCh38
NC_000006.11:g.32006882_32006883delinsAA , CM000668.1:g.32006882_32006883delinsAA	GRCh37
NC_000006.10:g.32114861_32114862delinsAA	NCBI36
NG_007941.2:g.5798_5799delinsAA
NG_007941.3:g.5801_5802delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.304_305delinsAA MANE Select	ENSP00000496625.1:p.Ser102Asn
ENST00000418967.6:c.304_305delinsAA	ENSP00000408860.2:p.Ser102Asn
ENST00000435122.3:c.214_215delinsAA	ENSP00000415043.2:p.Ser72Asn
ENST00000464325.5:n.230-5_230-4delinsAA
ENST00000466779.5:c.323_324delinsAA	ENSP00000417321.1:p.Val108Glu
ENST00000466879.5:n.355_356delinsAA
ENST00000469053.5:c.233_234delinsAA	ENSP00000418104.1:p.Val78Glu
ENST00000471671.4:c.304_305delinsAA	ENSP00000418561.1:p.Ser102Asn
ENST00000478281.5:c.337_338delinsAA	ENSP00000419572.1:p.Ser113Asn
ENST00000479074.5:n.362_363delinsAA
ENST00000479730.5:n.459_460delinsAA
ENST00000480027.1:n.639_640delinsAA
ENST00000483041.5:n.473_474delinsAA
ENST00000486063.5:n.484_485delinsAA
ENST00000488465.1:n.312_313delinsAA
NM_000500.7:c.304_305delinsAA	NP_000491.4:p.Ser102Asn
NM_001128590.3:c.214_215delinsAA	NP_001122062.3:p.Ser72Asn
XM_011514314.1:c.-102_-101delinsAA	XP_011512616.1:n.-102_-101delinsAA
NM_000500.9:c.304_305delinsAA MANE Select	NP_000491.4:p.Ser102Asn
NM_001368143.1:c.-102_-101delinsAA	NP_001355072.1:n.-102_-101delinsAA
NM_001368144.1:c.-102_-101delinsAA	NP_001355073.1:n.-102_-101delinsAA
NM_001128590.4:c.214_215delinsAA	NP_001122062.3:p.Ser72Asn
NM_001368143.2:c.-102_-101delinsAA	NP_001355072.1:n.-102_-101delinsAA
NM_001368144.2:c.-102_-101delinsAA	NP_001355073.1:n.-102_-101delinsAA