Canonical Allele Identifier: CA2465003996
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 988701
ClinVar RCV Id: RCV001291025
dbSNP Id: rs2089305275
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149482968del , CM000685.2:g.149482968del GRCh38
NC_000023.10:g.148564499del , CM000685.1:g.148564499del GRCh37
NC_000023.9:g.148372404del NCBI36
NG_011900.3:g.27367del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1431del MANE Select ENSP00000339801.6:p.Asp478ThrfsTer5
ENST00000651111.1:c.798del ENSP00000498395.1:p.Asp267ThrfsTer5
ENST00000340855.10:c.1431del ENSP00000339801.6:p.Asp478ThrfsTer5
ENST00000422081.6:c.798del ENSP00000477056.1:p.Asp267ThrfsTer5
NM_000202.6:c.1431del NP_000193.1:p.Asp478ThrfsTer5
NM_001166550.2:c.1161del NP_001160022.1:p.Asp388ThrfsTer5
NM_000202.7:c.1431del NP_000193.1:p.Asp478ThrfsTer5
NM_001166550.3:c.1161del NP_001160022.1:p.Asp388ThrfsTer5
NM_000202.8:c.1431del MANE Select NP_000193.1:p.Asp478ThrfsTer5
NM_001166550.4:c.1161del NP_001160022.1:p.Asp388ThrfsTer5
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