Canonical Allele Identifier: CA2465003989
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 988703
ClinVar RCV Id: RCV001291027
dbSNP Id: rs2089305109
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149482959_149482963del , CM000685.2:g.149482959_149482963del GRCh38
NC_000023.10:g.148564490_148564494del , CM000685.1:g.148564490_148564494del GRCh37
NC_000023.9:g.148372395_148372399del NCBI36
NG_011900.3:g.27374_27378del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1438_1442del MANE Select ENSP00000339801.6:p.Pro480PhefsTer17
ENST00000651111.1:c.805_809del ENSP00000498395.1:p.Pro269PhefsTer17
ENST00000340855.10:c.1438_1442del ENSP00000339801.6:p.Pro480PhefsTer17
ENST00000422081.6:c.805_809del ENSP00000477056.1:p.Pro269PhefsTer17
NM_000202.6:c.1438_1442del NP_000193.1:p.Pro480PhefsTer17
NM_001166550.2:c.1168_1172del NP_001160022.1:p.Pro390PhefsTer17
NM_000202.7:c.1438_1442del NP_000193.1:p.Pro480PhefsTer17
NM_001166550.3:c.1168_1172del NP_001160022.1:p.Pro390PhefsTer17
NM_000202.8:c.1438_1442del MANE Select NP_000193.1:p.Pro480PhefsTer17
NM_001166550.4:c.1168_1172del NP_001160022.1:p.Pro390PhefsTer17
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