Canonical Allele Identifier: CA1619399495
Gene: CYP21A2 HGNC NCBI

Linked Data

dbSNP Id: rs1776292875

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040920_32040928del , CM000668.2:g.32040920_32040928del GRCh38
NC_000006.11:g.32008697_32008705del , CM000668.1:g.32008697_32008705del GRCh37
NC_000006.10:g.32116676_32116684del NCBI36
NG_007941.2:g.7613_7621del
NG_008337.2:g.73450_73458del
NG_007941.3:g.7616_7624del

Transcript Alleles

HGVS Amino-acid change
ENST00000644719.2:c.1274_1282del MANE Select ENSP00000496625.1:p.Gly425_Arg427del
ENST00000418967.6:c.1274_1282del ENSP00000408860.2:p.Gly425_Arg427del
ENST00000435122.3:c.1184_1192del ENSP00000415043.2:p.Gly395_Arg397del
ENST00000479074.5:n.1415_1423del
ENST00000479730.5:n.1390_1398del
ENST00000483041.5:n.1443_1451del
ENST00000486063.5:n.1253_1261del
NM_000500.7:c.1274_1282del NP_000491.4:p.Gly425_Arg427del
NM_001128590.3:c.1184_1192del NP_001122062.3:p.Gly395_Arg397del
XM_011514314.1:c.869_877del XP_011512616.1:p.Gly290_Arg292del
NM_000500.9:c.1274_1282del MANE Select NP_000491.4:p.Gly425_Arg427del
NM_001368143.1:c.869_877del NP_001355072.1:p.Gly290_Arg292del
NM_001368144.1:c.869_877del NP_001355073.1:p.Gly290_Arg292del
NM_001128590.4:c.1184_1192del NP_001122062.3:p.Gly395_Arg397del
NM_001368143.2:c.869_877del NP_001355072.1:p.Gly290_Arg292del
NM_001368144.2:c.869_877del NP_001355073.1:p.Gly290_Arg292del