Canonical Allele Identifier: CA275164
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 196234
ClinVar RCV Id: RCV000177015
dbSNP Id: rs797044703
MyVariant Identifiers: chrX:g.148584943_148584946dup (hg19) chrX:g.148584942_148584943insTTGA (hg19) chrX:g.149503412_149503413insTTGA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149503413_149503416dup , CM000685.2:g.149503413_149503416dup GRCh38
NC_000023.10:g.148584943_148584946dup , CM000685.1:g.148584943_148584946dup GRCh37
NC_000023.9:g.148392848_148392851dup NCBI36
NG_011900.3:g.6919_6922dup

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.314_317dup MANE Select ENSP00000339801.6:p.Ser107GlnfsTer?
ENST00000651111.1:c.-215-2379_-215-2376dup ENSP00000498395.1:n.-215-2379_-215-2376du...
ENST00000340855.10:c.314_317dup ENSP00000339801.6:p.Ser107GlnfsTer?
ENST00000370441.8:c.314_317dup ENSP00000359470.4:p.Ser107GlnfsTer?
ENST00000422081.6:c.-215-2379_-215-2376dup ENSP00000477056.1:n.-215-2379_-215-2376du...
ENST00000427113.2:n.770-1193_770-1190dup
ENST00000428056.6:c.314_317dup ENSP00000390241.2:p.Ser107GlnfsTer?
ENST00000441880.1:n.114-16318_114-16315dup
ENST00000464251.5:c.137_140dup ENSP00000428980.1:p.Ser48GlnfsTer?
ENST00000466323.5:c.314_317dup ENSP00000418264.1:p.Ser107GlnfsTer?
ENST00000523759.5:n.533-2379_533-2376dup
NM_000202.6:c.314_317dup NP_000193.1:p.Ser107GlnfsTer?
NM_001166550.2:c.44_47dup NP_001160022.1:p.Ser17GlnfsTer?
NM_006123.4:c.314_317dup NP_006114.1:p.Ser107GlnfsTer?
NR_104128.1:n.531_534dup
NM_000202.7:c.314_317dup NP_000193.1:p.Ser107GlnfsTer?
NM_001166550.3:c.44_47dup NP_001160022.1:p.Ser17GlnfsTer?
NM_000202.8:c.314_317dup MANE Select NP_000193.1:p.Ser107GlnfsTer?
NM_001166550.4:c.44_47dup NP_001160022.1:p.Ser17GlnfsTer?
NM_006123.5:c.314_317dup NP_006114.1:p.Ser107GlnfsTer?
NR_104128.2:n.483_486dup
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