Canonical Allele Identifier: CA2695236626
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498110_149498117del , CM000685.2:g.149498110_149498117del GRCh38
NC_000023.10:g.148579641_148579648del , CM000685.1:g.148579641_148579648del GRCh37
NC_000023.9:g.148387546_148387553del NCBI36
NG_011900.3:g.12218_12225del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.698_705del MANE Select ENSP00000339801.6:p.Arg233LysfsTer22
ENST00000651111.1:c.65_72del ENSP00000498395.1:p.Arg22LysfsTer22
ENST00000340855.10:c.698_705del ENSP00000339801.6:p.Arg233LysfsTer22
ENST00000370441.8:c.698_705del ENSP00000359470.4:p.Arg233LysfsTer22
ENST00000422081.6:c.65_72del ENSP00000477056.1:p.Arg22LysfsTer22
ENST00000441880.1:n.114-11019_114-11012del
ENST00000464251.5:c.624_631del ENSP00000428980.1:n.624_631del
ENST00000466019.1:n.150_157del
ENST00000466323.5:c.698_705del ENSP00000418264.1:p.Arg233LysfsTer22
ENST00000490775.5:n.483_490del
NM_000202.6:c.698_705del NP_000193.1:p.Arg233LysfsTer22
NM_001166550.2:c.428_435del NP_001160022.1:p.Arg143LysfsTer22
NM_006123.4:c.698_705del NP_006114.1:p.Arg233LysfsTer22
NR_104128.1:n.915_922del
NM_000202.7:c.698_705del NP_000193.1:p.Arg233LysfsTer22
NM_001166550.3:c.428_435del NP_001160022.1:p.Arg143LysfsTer22
NM_000202.8:c.698_705del MANE Select NP_000193.1:p.Arg233LysfsTer22
NM_001166550.4:c.428_435del NP_001160022.1:p.Arg143LysfsTer22
NM_006123.5:c.698_705del NP_006114.1:p.Arg233LysfsTer22
NR_104128.2:n.867_874del