Canonical Allele Identifier: CA2580101616
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 1756686
ClinVar RCV Id: RCV002364833

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498110_149498114delinsC , CM000685.2:g.149498110_149498114delinsC GRCh38
NC_000023.10:g.148579641_148579645delinsC , CM000685.1:g.148579641_148579645delinsC GRCh37
NC_000023.9:g.148387546_148387550delinsC NCBI36
NG_011900.3:g.12221_12225delinsG

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.701_705delinsG MANE Select ENSP00000339801.6:p.Tyr234Ter
ENST00000651111.1:c.68_72delinsG ENSP00000498395.1:p.Tyr23Ter
ENST00000340855.10:c.701_705delinsG ENSP00000339801.6:p.Tyr234Ter
ENST00000370441.8:c.701_705delinsG ENSP00000359470.4:p.Tyr234Ter
ENST00000422081.6:c.68_72delinsG ENSP00000477056.1:p.Tyr23Ter
ENST00000441880.1:n.114-11016_114-11012delinsG
ENST00000464251.5:c.627_631delinsG ENSP00000428980.1:n.627_631delinsG
ENST00000466019.1:n.153_157delinsG
ENST00000466323.5:c.701_705delinsG ENSP00000418264.1:p.Tyr234Ter
ENST00000490775.5:n.486_490delinsG
NM_000202.6:c.701_705delinsG NP_000193.1:p.Tyr234Ter
NM_001166550.2:c.431_435delinsG NP_001160022.1:p.Tyr144Ter
NM_006123.4:c.701_705delinsG NP_006114.1:p.Tyr234Ter
NR_104128.1:n.918_922delinsG
NM_000202.7:c.701_705delinsG NP_000193.1:p.Tyr234Ter
NM_001166550.3:c.431_435delinsG NP_001160022.1:p.Tyr144Ter
NM_000202.8:c.701_705delinsG MANE Select NP_000193.1:p.Tyr234Ter
NM_001166550.4:c.431_435delinsG NP_001160022.1:p.Tyr144Ter
NM_006123.5:c.701_705delinsG NP_006114.1:p.Tyr234Ter
NR_104128.2:n.870_874delinsG