Canonical Allele Identifier: CA2695206178

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040469del , CM000668.2:g.32040469del	GRCh38
NC_000006.11:g.32008246del , CM000668.1:g.32008246del	GRCh37
NC_000006.10:g.32116225del	NCBI36
NG_007941.2:g.7162del
NG_008337.2:g.73908del
NG_007941.3:g.7165del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1003del MANE Select	ENSP00000496625.1:p.Val335SerfsTer28
ENST00000418967.6:c.1003del	ENSP00000408860.2:p.Val335SerfsTer28
ENST00000435122.3:c.913del	ENSP00000415043.2:p.Val305SerfsTer28
ENST00000479074.5:n.1061del
ENST00000479730.5:n.1119del
ENST00000483041.5:n.1172del
ENST00000486063.5:n.982del
NM_000500.7:c.1003del	NP_000491.4:p.Val335SerfsTer28
NM_001128590.3:c.913del	NP_001122062.3:p.Val305SerfsTer28
XM_011514314.1:c.598del	XP_011512616.1:p.Val200SerfsTer28
NM_000500.9:c.1003del MANE Select	NP_000491.4:p.Val335SerfsTer28
NM_001368143.1:c.598del	NP_001355072.1:p.Val200SerfsTer28
NM_001368144.1:c.598del	NP_001355073.1:p.Val200SerfsTer28
NM_001128590.4:c.913del	NP_001122062.3:p.Val305SerfsTer28
NM_001368143.2:c.598del	NP_001355072.1:p.Val200SerfsTer28
NM_001368144.2:c.598del	NP_001355073.1:p.Val200SerfsTer28