Canonical Allele Identifier: CA2465005634
Gene: IDS HGNC NCBI

Linked Data

dbSNP Id: rs2089344313

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149487176_149487180del , CM000685.2:g.149487176_149487180del GRCh38
NC_000023.10:g.148568707_148568711del , CM000685.1:g.148568707_148568711del GRCh37
NC_000023.9:g.148376612_148376616del NCBI36
NG_011900.3:g.23161_23165del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1007-76_1007-72del MANE Select ENSP00000339801.6:n.1007-76_1007-72del
ENST00000651111.1:c.374-76_374-72del ENSP00000498395.1:n.374-76_374-72del
ENST00000340855.10:c.1007-76_1007-72del ENSP00000339801.6:n.1007-76_1007-72del
ENST00000370441.8:c.*114_*118del ENSP00000359470.4:n.*114_*118del
ENST00000422081.6:c.374-76_374-72del ENSP00000477056.1:n.374-76_374-72del
ENST00000441880.1:n.114-76_114-72del
ENST00000466323.5:c.*337_*341del ENSP00000418264.1:n.*337_*341del
ENST00000490775.5:n.931_935del
NM_000202.6:c.1007-76_1007-72del NP_000193.1:n.1007-76_1007-72del
NM_001166550.2:c.737-76_737-72del NP_001160022.1:n.737-76_737-72del
NM_006123.4:c.*114_*118del NP_006114.1:n.*114_*118del
NR_104128.1:n.1493_1497del
NM_000202.7:c.1007-76_1007-72del NP_000193.1:n.1007-76_1007-72del
NM_001166550.3:c.737-76_737-72del NP_001160022.1:n.737-76_737-72del
NM_000202.8:c.1007-76_1007-72del MANE Select NP_000193.1:n.1007-76_1007-72del
NM_001166550.4:c.737-76_737-72del NP_001160022.1:n.737-76_737-72del
NM_006123.5:c.*114_*118del NP_006114.1:n.*114_*118del
NR_104128.2:n.1445_1449del