Canonical Allele Identifier: CA2695206177

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040457_32040466del , CM000668.2:g.32040457_32040466del	GRCh38
NC_000006.11:g.32008234_32008243del , CM000668.1:g.32008234_32008243del	GRCh37
NC_000006.10:g.32116213_32116222del	NCBI36
NG_007941.2:g.7150_7159del
NG_008337.2:g.73911_73920del
NG_007941.3:g.7153_7162del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.991_1000del MANE Select	ENSP00000496625.1:p.Ser331GlyfsTer29
ENST00000418967.6:c.991_1000del	ENSP00000408860.2:p.Ser331GlyfsTer29
ENST00000435122.3:c.901_910del	ENSP00000415043.2:p.Ser301GlyfsTer29
ENST00000479074.5:n.1049_1058del
ENST00000479730.5:n.1107_1116del
ENST00000483041.5:n.1160_1169del
ENST00000486063.5:n.970_979del
NM_000500.7:c.991_1000del	NP_000491.4:p.Ser331GlyfsTer29
NM_001128590.3:c.901_910del	NP_001122062.3:p.Ser301GlyfsTer29
XM_011514314.1:c.586_595del	XP_011512616.1:p.Ser196GlyfsTer29
NM_000500.9:c.991_1000del MANE Select	NP_000491.4:p.Ser331GlyfsTer29
NM_001368143.1:c.586_595del	NP_001355072.1:p.Ser196GlyfsTer29
NM_001368144.1:c.586_595del	NP_001355073.1:p.Ser196GlyfsTer29
NM_001128590.4:c.901_910del	NP_001122062.3:p.Ser301GlyfsTer29
NM_001368143.2:c.586_595del	NP_001355072.1:p.Ser196GlyfsTer29
NM_001368144.2:c.586_595del	NP_001355073.1:p.Ser196GlyfsTer29