Canonical Allele Identifier: CA2695236603

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149496419_149496424delinsGCCA , CM000685.2:g.149496419_149496424delinsGCCA	GRCh38
NC_000023.10:g.148577950_148577955delinsGCCA , CM000685.1:g.148577950_148577955delinsGCCA	GRCh37
NC_000023.9:g.148385855_148385860delinsGCCA	NCBI36
NG_011900.3:g.13911_13916delinsTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.801_806delinsTGGC MANE Select	ENSP00000339801.6:p.Trp267CysfsTer?
ENST00000651111.1:c.168_173delinsTGGC	ENSP00000498395.1:p.Trp56CysfsTer?
ENST00000340855.10:c.801_806delinsTGGC	ENSP00000339801.6:p.Trp267CysfsTer?
ENST00000370441.8:c.801_806delinsTGGC	ENSP00000359470.4:p.Trp267CysfsTer?
ENST00000422081.6:c.168_173delinsTGGC	ENSP00000477056.1:p.Trp56CysfsTer?
ENST00000441880.1:n.114-9326_114-9321delinsTGGC
ENST00000464251.5:c.727_732delinsTGGC	ENSP00000428980.1:n.727_732delinsTGGC
ENST00000466019.1:n.253_258delinsTGGC
ENST00000466323.5:c.801_806delinsTGGC	ENSP00000418264.1:p.Trp267CysfsTer?
ENST00000490775.5:n.586_591delinsTGGC
NM_000202.6:c.801_806delinsTGGC	NP_000193.1:p.Trp267CysfsTer?
NM_001166550.2:c.531_536delinsTGGC	NP_001160022.1:p.Trp177CysfsTer?
NM_006123.4:c.801_806delinsTGGC	NP_006114.1:p.Trp267CysfsTer?
NR_104128.1:n.1018_1023delinsTGGC
NM_000202.7:c.801_806delinsTGGC	NP_000193.1:p.Trp267CysfsTer?
NM_001166550.3:c.531_536delinsTGGC	NP_001160022.1:p.Trp177CysfsTer?
NM_000202.8:c.801_806delinsTGGC MANE Select	NP_000193.1:p.Trp267CysfsTer?
NM_001166550.4:c.531_536delinsTGGC	NP_001160022.1:p.Trp177CysfsTer?
NM_006123.5:c.801_806delinsTGGC	NP_006114.1:p.Trp267CysfsTer?
NR_104128.2:n.970_975delinsTGGC