Canonical Allele Identifier: CA823930413
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1296992565

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038998_32038999del , CM000668.2:g.32038998_32038999del GRCh38
NC_000006.11:g.32006775_32006776del , CM000668.1:g.32006775_32006776del GRCh37
NC_000006.10:g.32114754_32114755del NCBI36
NG_007941.2:g.5691_5692del
NG_007941.3:g.5694_5695del

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.293-96_293-95del MANE Select ENSP00000496625.1:n.293-96_293-95del
ENST00000418967.6:c.293-96_293-95del ENSP00000408860.2:n.293-96_293-95del
ENST00000435122.3:c.203-96_203-95del ENSP00000415043.2:n.203-96_203-95del
ENST00000464325.5:n.230-112_230-111del
ENST00000466779.5:c.293-77_293-76del ENSP00000417321.1:n.293-77_293-76del
ENST00000466879.5:n.248_249del
ENST00000469053.5:c.203-77_203-76del ENSP00000418104.1:n.203-77_203-76del
ENST00000471671.4:c.293-96_293-95del ENSP00000418561.1:n.293-96_293-95del
ENST00000478281.5:c.293-63_293-62del ENSP00000419572.1:n.293-63_293-62del
ENST00000479074.5:n.351-96_351-95del
ENST00000479730.5:n.448-96_448-95del
ENST00000480027.1:n.532_533del
ENST00000483041.5:n.443-77_443-76del
ENST00000486063.5:n.473-96_473-95del
ENST00000488465.1:n.301-96_301-95del
NM_000500.7:c.293-96_293-95del NP_000491.4:n.293-96_293-95del
NM_001128590.3:c.203-96_203-95del NP_001122062.3:n.203-96_203-95del
XM_011514314.1:c.-132-77_-132-76del XP_011512616.1:n.-132-77_-132-76del
NM_000500.9:c.293-96_293-95del MANE Select NP_000491.4:n.293-96_293-95del
NM_001368143.1:c.-132-77_-132-76del NP_001355072.1:n.-132-77_-132-76del
NM_001368144.1:c.-132-77_-132-76del NP_001355073.1:n.-132-77_-132-76del
NM_001128590.4:c.203-96_203-95del NP_001122062.3:n.203-96_203-95del
NM_001368143.2:c.-132-77_-132-76del NP_001355072.1:n.-132-77_-132-76del
NM_001368144.2:c.-132-77_-132-76del NP_001355073.1:n.-132-77_-132-76del