Canonical Allele Identifier: CA2582342935
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 2584938
ClinVar RCV Id: RCV003340838

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149486935del , CM000685.2:g.149486935del GRCh38
NC_000023.10:g.148568466del , CM000685.1:g.148568466del GRCh37
NC_000023.9:g.148376371del NCBI36
NG_011900.3:g.23400del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1170del MANE Select ENSP00000339801.6:p.Met391TrpfsTer?
ENST00000651111.1:c.537del ENSP00000498395.1:p.Met180TrpfsTer?
ENST00000340855.10:c.1170del ENSP00000339801.6:p.Met391TrpfsTer?
ENST00000422081.6:c.537del ENSP00000477056.1:p.Met180TrpfsTer?
ENST00000441880.1:n.277del
NM_000202.6:c.1170del NP_000193.1:p.Met391TrpfsTer?
NM_001166550.2:c.900del NP_001160022.1:p.Met301TrpfsTer?
NM_000202.7:c.1170del NP_000193.1:p.Met391TrpfsTer?
NM_001166550.3:c.900del NP_001160022.1:p.Met301TrpfsTer?
NM_000202.8:c.1170del MANE Select NP_000193.1:p.Met391TrpfsTer?
NM_001166550.4:c.900del NP_001160022.1:p.Met301TrpfsTer?