Canonical Allele Identifier: CA2580101619

Gene: IDS

Linked Data

• ClinVar Variation Id: 1726169
• ClinVar RCV Id: RCV002307140

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498121dup , CM000685.2:g.149498121dup	GRCh38
NC_000023.10:g.148579652dup , CM000685.1:g.148579652dup	GRCh37
NC_000023.9:g.148387557dup	NCBI36
NG_011900.3:g.12215dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.695dup MANE Select	ENSP00000339801.6:p.Arg233GlnfsTer25
ENST00000651111.1:c.62dup	ENSP00000498395.1:p.Arg22GlnfsTer25
ENST00000340855.10:c.695dup	ENSP00000339801.6:p.Arg233GlnfsTer25
ENST00000370441.8:c.695dup	ENSP00000359470.4:p.Arg233GlnfsTer25
ENST00000422081.6:c.62dup	ENSP00000477056.1:p.Arg22GlnfsTer25
ENST00000441880.1:n.114-11022dup
ENST00000464251.5:c.621dup	ENSP00000428980.1:n.621dup
ENST00000466019.1:n.147dup
ENST00000466323.5:c.695dup	ENSP00000418264.1:p.Arg233GlnfsTer25
ENST00000490775.5:n.480dup
NM_000202.6:c.695dup	NP_000193.1:p.Arg233GlnfsTer25
NM_001166550.2:c.425dup	NP_001160022.1:p.Arg143GlnfsTer25
NM_006123.4:c.695dup	NP_006114.1:p.Arg233GlnfsTer25
NR_104128.1:n.912dup
NM_000202.7:c.695dup	NP_000193.1:p.Arg233GlnfsTer25
NM_001166550.3:c.425dup	NP_001160022.1:p.Arg143GlnfsTer25
NM_000202.8:c.695dup MANE Select	NP_000193.1:p.Arg233GlnfsTer25
NM_001166550.4:c.425dup	NP_001160022.1:p.Arg143GlnfsTer25
NM_006123.5:c.695dup	NP_006114.1:p.Arg233GlnfsTer25
NR_104128.2:n.864dup