Canonical Allele Identifier: CA2499226407
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 997043
ClinVar RCV Id: RCV001568380
dbSNP Id: rs2123994190
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149482935del , CM000685.2:g.149482935del GRCh38
NC_000023.10:g.148564466del , CM000685.1:g.148564466del GRCh37
NC_000023.9:g.148372371del NCBI36
NG_011900.3:g.27402del

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.1466del MANE Select ENSP00000339801.6:p.Gly489AlafsTer7
ENST00000651111.1:c.833del ENSP00000498395.1:p.Gly278AlafsTer7
ENST00000340855.10:c.1466del ENSP00000339801.6:p.Gly489AlafsTer7
ENST00000422081.6:c.833del ENSP00000477056.1:p.Gly278AlafsTer7
NM_000202.6:c.1466del NP_000193.1:p.Gly489AlafsTer7
NM_001166550.2:c.1196del NP_001160022.1:p.Gly399AlafsTer7
NM_000202.7:c.1466del NP_000193.1:p.Gly489AlafsTer7
NM_001166550.3:c.1196del NP_001160022.1:p.Gly399AlafsTer7
NM_000202.8:c.1466del MANE Select NP_000193.1:p.Gly489AlafsTer7
NM_001166550.4:c.1196del NP_001160022.1:p.Gly399AlafsTer7
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