Canonical Allele Identifier: CA255278
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 10496
ClinVar RCV Id: RCV000011242
dbSNP Id: rs483352904
MyVariant Identifiers: chrX:g.148579836_148579837del (hg19) chrX:g.149498305_149498306del (hg38)
PubMed: PMID:1303211
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498306_149498307del , CM000685.2:g.149498306_149498307del GRCh38
NC_000023.10:g.148579837_148579838del , CM000685.1:g.148579837_148579838del GRCh37
NC_000023.9:g.148387742_148387743del NCBI36
NG_011900.3:g.12029_12030del

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.509_510del MANE Select ENSP00000339801.6:p.Thr170MetfsTer28
ENST00000651111.1:c.-125_-124del ENSP00000498395.1:n.-125_-124del
ENST00000340855.10:c.509_510del ENSP00000339801.6:p.Thr170MetfsTer28
ENST00000370441.8:c.509_510del ENSP00000359470.4:p.Thr170MetfsTer28
ENST00000422081.6:c.-125_-124del ENSP00000477056.1:n.-125_-124del
ENST00000441880.1:n.114-11208_114-11207del
ENST00000464251.5:c.435_436del ENSP00000428980.1:n.435_436del
ENST00000466323.5:c.509_510del ENSP00000418264.1:p.Thr170MetfsTer28
ENST00000490775.5:n.294_295del
ENST00000523759.5:n.623_624del
NM_000202.6:c.509_510del NP_000193.1:p.Thr170MetfsTer28
NM_001166550.2:c.239_240del NP_001160022.1:p.Thr80MetfsTer28
NM_006123.4:c.509_510del NP_006114.1:p.Thr170MetfsTer28
NR_104128.1:n.726_727del
NM_000202.7:c.509_510del NP_000193.1:p.Thr170MetfsTer28
NM_001166550.3:c.239_240del NP_001160022.1:p.Thr80MetfsTer28
NM_000202.8:c.509_510del MANE Select NP_000193.1:p.Thr170MetfsTer28
NM_001166550.4:c.239_240del NP_001160022.1:p.Thr80MetfsTer28
NM_006123.5:c.509_510del NP_006114.1:p.Thr170MetfsTer28
NR_104128.2:n.678_679del
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