Canonical Allele Identifier: CA349638
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 221217
ClinVar RCV Id: RCV000205483
dbSNP Id: rs193302913

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490413_149490414del , CM000685.2:g.149490413_149490414del GRCh38
NC_000023.10:g.148571944_148571945del , CM000685.1:g.148571944_148571945del GRCh37
NC_000023.9:g.148379849_148379850del NCBI36
NG_011900.3:g.19923_19924del

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.908_909del MANE Select ENSP00000339801.6:p.Ser303CysfsTer?
ENST00000651111.1:c.275_276del ENSP00000498395.1:p.Ser92CysfsTer?
ENST00000340855.10:c.908_909del ENSP00000339801.6:p.Ser303CysfsTer?
ENST00000370441.8:c.908_909del ENSP00000359470.4:p.Ser303CysfsTer?
ENST00000422081.6:c.275_276del ENSP00000477056.1:p.Ser92CysfsTer?
ENST00000441880.1:n.114-3314_114-3313del
ENST00000464251.5:c.834_835del ENSP00000428980.1:n.834_835del
ENST00000466323.5:c.*99_*100del ENSP00000418264.1:n.*99_*100del
ENST00000490775.5:n.693_694del
NM_000202.6:c.908_909del NP_000193.1:p.Ser303CysfsTer?
NM_001166550.2:c.638_639del NP_001160022.1:p.Ser213CysfsTer?
NM_006123.4:c.908_909del NP_006114.1:p.Ser303CysfsTer?
NR_104128.1:n.1255_1256del
NM_000202.7:c.908_909del NP_000193.1:p.Ser303CysfsTer?
NM_001166550.3:c.638_639del NP_001160022.1:p.Ser213CysfsTer?
NM_000202.8:c.908_909del MANE Select NP_000193.1:p.Ser303CysfsTer?
NM_001166550.4:c.638_639del NP_001160022.1:p.Ser213CysfsTer?
NM_006123.5:c.908_909del NP_006114.1:p.Ser303CysfsTer?
NR_104128.2:n.1207_1208del