Canonical Allele Identifier: CA2824136240

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490460_149490461insCCCAAACACACCCAACAC , CM000685.2:g.149490460_149490461insCCCAAACACACCCAACAC	GRCh38
NC_000023.10:g.148571991_148571992insCCCAAACACACCCAACAC , CM000685.1:g.148571991_148571992insCCCAAACACACCCAACAC	GRCh37
NC_000023.9:g.148379896_148379897insCCCAAACACACCCAACAC	NCBI36
NG_011900.3:g.19874_19875insGTGTTGGGTGTGTTTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.880-21_880-20insGTGTTGGGTGTGTTTGGG MANE Select	ENSP00000339801.6:n.880-21_880-20insGTGTTGGGTGTGTTTGGG
ENST00000651111.1:c.247-21_247-20insGTGTTGGGTGTGTTTGGG	ENSP00000498395.1:n.247-21_247-20insGTGTTGGGTGTGTTTGGG
ENST00000340855.10:c.880-21_880-20insGTGTTGGGTGTGTTTGGG	ENSP00000339801.6:n.880-21_880-20insGTGTTGGGTGTGTTTGGG
ENST00000370441.8:c.880-21_880-20insGTGTTGGGTGTGTTTGGG	ENSP00000359470.4:n.880-21_880-20insGTGTTGGGTGTGTTTGGG
ENST00000422081.6:c.247-21_247-20insGTGTTGGGTGTGTTTGGG	ENSP00000477056.1:n.247-21_247-20insGTGTTGGGTGTGTTTGGG
ENST00000441880.1:n.114-3363_114-3362insGTGTTGGGTGTGTTTGGG
ENST00000464251.5:c.806-21_806-20insGTGTTGGGTGTGTTTGGG	ENSP00000428980.1:n.806-21_806-20insGTGTTGGGTGTGTTTGGG
ENST00000466323.5:c.*71-21_*71-20insGTGTTGGGTGTGTTTGGG	ENSP00000418264.1:n.*71-21_*71-20insGTGTTGGGTGTGTTTGGG
ENST00000490775.5:n.665-21_665-20insGTGTTGGGTGTGTTTGGG
NM_000202.6:c.880-21_880-20insGTGTTGGGTGTGTTTGGG	NP_000193.1:n.880-21_880-20insGTGTTGGGTGTGTTTGGG
NM_001166550.2:c.610-21_610-20insGTGTTGGGTGTGTTTGGG	NP_001160022.1:n.610-21_610-20insGTGTTGGGTGTGTTTGGG
NM_006123.4:c.880-21_880-20insGTGTTGGGTGTGTTTGGG	NP_006114.1:n.880-21_880-20insGTGTTGGGTGTGTTTGGG
NR_104128.1:n.1227-21_1227-20insGTGTTGGGTGTGTTTGGG
NM_000202.7:c.880-21_880-20insGTGTTGGGTGTGTTTGGG	NP_000193.1:n.880-21_880-20insGTGTTGGGTGTGTTTGGG
NM_001166550.3:c.610-21_610-20insGTGTTGGGTGTGTTTGGG	NP_001160022.1:n.610-21_610-20insGTGTTGGGTGTGTTTGGG
NM_000202.8:c.880-21_880-20insGTGTTGGGTGTGTTTGGG MANE Select	NP_000193.1:n.880-21_880-20insGTGTTGGGTGTGTTTGGG
NM_001166550.4:c.610-21_610-20insGTGTTGGGTGTGTTTGGG	NP_001160022.1:n.610-21_610-20insGTGTTGGGTGTGTTTGGG
NM_006123.5:c.880-21_880-20insGTGTTGGGTGTGTTTGGG	NP_006114.1:n.880-21_880-20insGTGTTGGGTGTGTTTGGG
NR_104128.2:n.1179-21_1179-20insGTGTTGGGTGTGTTTGGG