Canonical Allele Identifier: CA2695236478
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149482824del , CM000685.2:g.149482824del GRCh38
NC_000023.10:g.148564355del , CM000685.1:g.148564355del GRCh37
NC_000023.9:g.148372260del NCBI36
NG_011900.3:g.27512del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1576del MANE Select ENSP00000339801.6:p.Asp526IlefsTer23
ENST00000651111.1:c.943del ENSP00000498395.1:p.Asp315IlefsTer23
ENST00000340855.10:c.1576del ENSP00000339801.6:p.Asp526IlefsTer23
ENST00000422081.6:c.943del ENSP00000477056.1:p.Asp315IlefsTer23
NM_000202.6:c.1576del NP_000193.1:p.Asp526IlefsTer23
NM_001166550.2:c.1306del NP_001160022.1:p.Asp436IlefsTer23
NM_000202.7:c.1576del NP_000193.1:p.Asp526IlefsTer23
NM_001166550.3:c.1306del NP_001160022.1:p.Asp436IlefsTer23
NM_000202.8:c.1576del MANE Select NP_000193.1:p.Asp526IlefsTer23
NM_001166550.4:c.1306del NP_001160022.1:p.Asp436IlefsTer23