Canonical Allele Identifier: CA916084005
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 834637
ClinVar RCV Id: RCV001035366
dbSNP Id: rs2089305017
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149482947_149482948del , CM000685.2:g.149482947_149482948del GRCh38
NC_000023.10:g.148564478_148564479del , CM000685.1:g.148564478_148564479del GRCh37
NC_000023.9:g.148372383_148372384del NCBI36
NG_011900.3:g.27390_27391del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1454_1455del MANE Select ENSP00000339801.6:p.Ile485LysfsTer13
ENST00000651111.1:c.821_822del ENSP00000498395.1:p.Ile274LysfsTer13
ENST00000340855.10:c.1454_1455del ENSP00000339801.6:p.Ile485LysfsTer13
ENST00000422081.6:c.821_822del ENSP00000477056.1:p.Ile274LysfsTer13
NM_000202.6:c.1454_1455del NP_000193.1:p.Ile485LysfsTer13
NM_001166550.2:c.1184_1185del NP_001160022.1:p.Ile395LysfsTer13
NM_000202.7:c.1454_1455del NP_000193.1:p.Ile485LysfsTer13
NM_001166550.3:c.1184_1185del NP_001160022.1:p.Ile395LysfsTer13
NM_000202.8:c.1454_1455del MANE Select NP_000193.1:p.Ile485LysfsTer13
NM_001166550.4:c.1184_1185del NP_001160022.1:p.Ile395LysfsTer13
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