Canonical Allele Identifier: CA2695236657
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498253_149498265del , CM000685.2:g.149498253_149498265del GRCh38
NC_000023.10:g.148579784_148579796del , CM000685.1:g.148579784_148579796del GRCh37
NC_000023.9:g.148387689_148387701del NCBI36
NG_011900.3:g.12073_12085del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.553_565del MANE Select ENSP00000339801.6:p.Pro185TrpfsTer24
ENST00000651111.1:c.-81_-69del ENSP00000498395.1:n.-81_-69del
ENST00000340855.10:c.553_565del ENSP00000339801.6:p.Pro185TrpfsTer24
ENST00000370441.8:c.553_565del ENSP00000359470.4:p.Pro185TrpfsTer24
ENST00000422081.6:c.-81_-69del ENSP00000477056.1:n.-81_-69del
ENST00000441880.1:n.114-11164_114-11152del
ENST00000464251.5:c.479_491del ENSP00000428980.1:n.479_491del
ENST00000466019.1:n.5_17del
ENST00000466323.5:c.553_565del ENSP00000418264.1:p.Pro185TrpfsTer24
ENST00000490775.5:n.338_350del
ENST00000523759.5:n.667_679del
NM_000202.6:c.553_565del NP_000193.1:p.Pro185TrpfsTer24
NM_001166550.2:c.283_295del NP_001160022.1:p.Pro95TrpfsTer24
NM_006123.4:c.553_565del NP_006114.1:p.Pro185TrpfsTer24
NR_104128.1:n.770_782del
NM_000202.7:c.553_565del NP_000193.1:p.Pro185TrpfsTer24
NM_001166550.3:c.283_295del NP_001160022.1:p.Pro95TrpfsTer24
NM_000202.8:c.553_565del MANE Select NP_000193.1:p.Pro185TrpfsTer24
NM_001166550.4:c.283_295del NP_001160022.1:p.Pro95TrpfsTer24
NM_006123.5:c.553_565del NP_006114.1:p.Pro185TrpfsTer24
NR_104128.2:n.722_734del