Canonical Allele Identifier: CA2697544791

Gene: IDS

Linked Data

• ClinVar Variation Id: 2698793
• ClinVar RCV Id: RCV003510469

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490441_149490442delinsGG , CM000685.2:g.149490441_149490442delinsGG	GRCh38
NC_000023.10:g.148571972_148571973delinsGG , CM000685.1:g.148571972_148571973delinsGG	GRCh37
NC_000023.9:g.148379877_148379878delinsGG	NCBI36
NG_011900.3:g.19893_19894delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.880-2_880-1delinsCC MANE Select	ENSP00000339801.6:n.880-2_880-1delinsCC
ENST00000651111.1:c.247-2_247-1delinsCC	ENSP00000498395.1:n.247-2_247-1delinsCC
ENST00000340855.10:c.880-2_880-1delinsCC	ENSP00000339801.6:n.880-2_880-1delinsCC
ENST00000370441.8:c.880-2_880-1delinsCC	ENSP00000359470.4:n.880-2_880-1delinsCC
ENST00000422081.6:c.247-2_247-1delinsCC	ENSP00000477056.1:n.247-2_247-1delinsCC
ENST00000441880.1:n.114-3344_114-3343delinsCC
ENST00000464251.5:c.806-2_806-1delinsCC	ENSP00000428980.1:n.806-2_806-1delinsCC
ENST00000466323.5:c.*71-2_*71-1delinsCC	ENSP00000418264.1:n.*71-2_*71-1delinsCC
ENST00000490775.5:n.665-2_665-1delinsCC
NM_000202.6:c.880-2_880-1delinsCC	NP_000193.1:n.880-2_880-1delinsCC
NM_001166550.2:c.610-2_610-1delinsCC	NP_001160022.1:n.610-2_610-1delinsCC
NM_006123.4:c.880-2_880-1delinsCC	NP_006114.1:n.880-2_880-1delinsCC
NR_104128.1:n.1227-2_1227-1delinsCC
NM_000202.7:c.880-2_880-1delinsCC	NP_000193.1:n.880-2_880-1delinsCC
NM_001166550.3:c.610-2_610-1delinsCC	NP_001160022.1:n.610-2_610-1delinsCC
NM_000202.8:c.880-2_880-1delinsCC MANE Select	NP_000193.1:n.880-2_880-1delinsCC
NM_001166550.4:c.610-2_610-1delinsCC	NP_001160022.1:n.610-2_610-1delinsCC
NM_006123.5:c.880-2_880-1delinsCC	NP_006114.1:n.880-2_880-1delinsCC
NR_104128.2:n.1179-2_1179-1delinsCC