Canonical Allele Identifier: CA2580101614
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 2440823
ClinVar RCV Id: RCV003146124
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149483051_149483055del , CM000685.2:g.149483051_149483055del GRCh38
NC_000023.10:g.148564582_148564586del , CM000685.1:g.148564582_148564586del GRCh37
NC_000023.9:g.148372487_148372491del NCBI36
NG_011900.3:g.27281_27285del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1345_1349del MANE Select ENSP00000339801.6:p.Glu449SerfsTer6
ENST00000651111.1:c.712_716del ENSP00000498395.1:p.Glu238SerfsTer6
ENST00000340855.10:c.1345_1349del ENSP00000339801.6:p.Glu449SerfsTer6
ENST00000422081.6:c.712_716del ENSP00000477056.1:p.Glu238SerfsTer6
NM_000202.6:c.1345_1349del NP_000193.1:p.Glu449SerfsTer6
NM_001166550.2:c.1075_1079del NP_001160022.1:p.Glu359SerfsTer6
NM_000202.7:c.1345_1349del NP_000193.1:p.Glu449SerfsTer6
NM_001166550.3:c.1075_1079del NP_001160022.1:p.Glu359SerfsTer6
NM_000202.8:c.1345_1349del MANE Select NP_000193.1:p.Glu449SerfsTer6
NM_001166550.4:c.1075_1079del NP_001160022.1:p.Glu359SerfsTer6
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