Canonical Allele Identifier: CA2695236607
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149496432del , CM000685.2:g.149496432del GRCh38
NC_000023.10:g.148577963del , CM000685.1:g.148577963del GRCh37
NC_000023.9:g.148385868del NCBI36
NG_011900.3:g.13904del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.794del MANE Select ENSP00000339801.6:p.Asn265ThrfsTer15
ENST00000651111.1:c.161del ENSP00000498395.1:p.Asn54ThrfsTer15
ENST00000340855.10:c.794del ENSP00000339801.6:p.Asn265ThrfsTer15
ENST00000370441.8:c.794del ENSP00000359470.4:p.Asn265ThrfsTer15
ENST00000422081.6:c.161del ENSP00000477056.1:p.Asn54ThrfsTer15
ENST00000441880.1:n.114-9333del
ENST00000464251.5:c.720del ENSP00000428980.1:n.720del
ENST00000466019.1:n.246del
ENST00000466323.5:c.794del ENSP00000418264.1:p.Asn265ThrfsTer15
ENST00000490775.5:n.579del
NM_000202.6:c.794del NP_000193.1:p.Asn265ThrfsTer15
NM_001166550.2:c.524del NP_001160022.1:p.Asn175ThrfsTer15
NM_006123.4:c.794del NP_006114.1:p.Asn265ThrfsTer15
NR_104128.1:n.1011del
NM_000202.7:c.794del NP_000193.1:p.Asn265ThrfsTer15
NM_001166550.3:c.524del NP_001160022.1:p.Asn175ThrfsTer15
NM_000202.8:c.794del MANE Select NP_000193.1:p.Asn265ThrfsTer15
NM_001166550.4:c.524del NP_001160022.1:p.Asn175ThrfsTer15
NM_006123.5:c.794del NP_006114.1:p.Asn265ThrfsTer15
NR_104128.2:n.963del