Canonical Allele Identifier: CA2695236476
Gene: IDS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149482812del , CM000685.2:g.149482812del GRCh38
NC_000023.10:g.148564343del , CM000685.1:g.148564343del GRCh37
NC_000023.9:g.148372248del NCBI36
NG_011900.3:g.27523del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1587del MANE Select ENSP00000339801.6:p.Leu530CysfsTer19
ENST00000651111.1:c.954del ENSP00000498395.1:p.Leu319CysfsTer19
ENST00000340855.10:c.1587del ENSP00000339801.6:p.Leu530CysfsTer19
ENST00000422081.6:c.954del ENSP00000477056.1:p.Leu319CysfsTer19
NM_000202.6:c.1587del NP_000193.1:p.Leu530CysfsTer19
NM_001166550.2:c.1317del NP_001160022.1:p.Leu440CysfsTer19
NM_000202.7:c.1587del NP_000193.1:p.Leu530CysfsTer19
NM_001166550.3:c.1317del NP_001160022.1:p.Leu440CysfsTer19
NM_000202.8:c.1587del MANE Select NP_000193.1:p.Leu530CysfsTer19
NM_001166550.4:c.1317del NP_001160022.1:p.Leu440CysfsTer19
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