Canonical Allele Identifier: CA2739273792
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 2840597
ClinVar RCV Id: RCV003623053

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149496335del , CM000685.2:g.149496335del GRCh38
NC_000023.10:g.148577866del , CM000685.1:g.148577866del GRCh37
NC_000023.9:g.148385771del NCBI36
NG_011900.3:g.14000del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.879+11del MANE Select ENSP00000339801.6:n.879+11del
ENST00000651111.1:c.246+11del ENSP00000498395.1:n.246+11del
ENST00000340855.10:c.879+11del ENSP00000339801.6:n.879+11del
ENST00000370441.8:c.879+11del ENSP00000359470.4:n.879+11del
ENST00000422081.6:c.246+11del ENSP00000477056.1:n.246+11del
ENST00000441880.1:n.114-9237del
ENST00000464251.5:c.805+11del ENSP00000428980.1:n.805+11del
ENST00000466019.1:n.331+11del
ENST00000466323.5:c.879+11del ENSP00000418264.1:n.879+11del
ENST00000490775.5:n.664+11del
NM_000202.6:c.879+11del NP_000193.1:n.879+11del
NM_001166550.2:c.609+11del NP_001160022.1:n.609+11del
NM_006123.4:c.879+11del NP_006114.1:n.879+11del
NR_104128.1:n.1096+11del
NM_000202.7:c.879+11del NP_000193.1:n.879+11del
NM_001166550.3:c.609+11del NP_001160022.1:n.609+11del
NM_000202.8:c.879+11del MANE Select NP_000193.1:n.879+11del
NM_001166550.4:c.609+11del NP_001160022.1:n.609+11del
NM_006123.5:c.879+11del NP_006114.1:n.879+11del
NR_104128.2:n.1048+11del