Canonical Allele Identifier: CA2465008693

Gene: IDS

Linked Data

• ClinVar Variation Id: 988684
• ClinVar RCV Id: RCV001291008
• dbSNP Id: rs2089436972

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149496424_149496425del , CM000685.2:g.149496424_149496425del	GRCh38
NC_000023.10:g.148577955_148577956del , CM000685.1:g.148577955_148577956del	GRCh37
NC_000023.9:g.148385860_148385861del	NCBI36
NG_011900.3:g.13910_13911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.800_801del MANE Select	ENSP00000339801.6:p.Trp267TyrfsTer?
ENST00000651111.1:c.167_168del	ENSP00000498395.1:p.Trp56TyrfsTer?
ENST00000340855.10:c.800_801del	ENSP00000339801.6:p.Trp267TyrfsTer?
ENST00000370441.8:c.800_801del	ENSP00000359470.4:p.Trp267TyrfsTer?
ENST00000422081.6:c.167_168del	ENSP00000477056.1:p.Trp56TyrfsTer?
ENST00000441880.1:n.114-9327_114-9326del
ENST00000464251.5:c.726_727del	ENSP00000428980.1:n.726_727del
ENST00000466019.1:n.252_253del
ENST00000466323.5:c.800_801del	ENSP00000418264.1:p.Trp267TyrfsTer?
ENST00000490775.5:n.585_586del
NM_000202.6:c.800_801del	NP_000193.1:p.Trp267TyrfsTer?
NM_001166550.2:c.530_531del	NP_001160022.1:p.Trp177TyrfsTer?
NM_006123.4:c.800_801del	NP_006114.1:p.Trp267TyrfsTer?
NR_104128.1:n.1017_1018del
NM_000202.7:c.800_801del	NP_000193.1:p.Trp267TyrfsTer?
NM_001166550.3:c.530_531del	NP_001160022.1:p.Trp177TyrfsTer?
NM_000202.8:c.800_801del MANE Select	NP_000193.1:p.Trp267TyrfsTer?
NM_001166550.4:c.530_531del	NP_001160022.1:p.Trp177TyrfsTer?
NM_006123.5:c.800_801del	NP_006114.1:p.Trp267TyrfsTer?
NR_104128.2:n.969_970del