Canonical Allele Identifier: CA2499226411
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 997042
ClinVar RCV Id: RCV001568379
dbSNP Id: rs2123994709
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149483083del , CM000685.2:g.149483083del GRCh38
NC_000023.10:g.148564614del , CM000685.1:g.148564614del GRCh37
NC_000023.9:g.148372519del NCBI36
NG_011900.3:g.27252del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1316del MANE Select ENSP00000339801.6:p.Leu439ArgfsTer22
ENST00000651111.1:c.683del ENSP00000498395.1:p.Leu228ArgfsTer22
ENST00000340855.10:c.1316del ENSP00000339801.6:p.Leu439ArgfsTer22
ENST00000422081.6:c.683del ENSP00000477056.1:p.Leu228ArgfsTer22
NM_000202.6:c.1316del NP_000193.1:p.Leu439ArgfsTer22
NM_001166550.2:c.1046del NP_001160022.1:p.Leu349ArgfsTer22
NM_000202.7:c.1316del NP_000193.1:p.Leu439ArgfsTer22
NM_001166550.3:c.1046del NP_001160022.1:p.Leu349ArgfsTer22
NM_000202.8:c.1316del MANE Select NP_000193.1:p.Leu439ArgfsTer22
NM_001166550.4:c.1046del NP_001160022.1:p.Leu349ArgfsTer22
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