Canonical Allele Identifier: CA2824136241

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490462_149490463insCCAAACACACCCAACAC , CM000685.2:g.149490462_149490463insCCAAACACACCCAACAC	GRCh38
NC_000023.10:g.148571993_148571994insCCAAACACACCCAACAC , CM000685.1:g.148571993_148571994insCCAAACACACCCAACAC	GRCh37
NC_000023.9:g.148379898_148379899insCCAAACACACCCAACAC	NCBI36
NG_011900.3:g.19872_19873insGTGTTGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.880-23_880-22insGTGTTGGGTGTGTTTGG MANE Select	ENSP00000339801.6:n.880-23_880-22insGTGTTGGGTGTGTTTGG
ENST00000651111.1:c.247-23_247-22insGTGTTGGGTGTGTTTGG	ENSP00000498395.1:n.247-23_247-22insGTGTTGGGTGTGTTTGG
ENST00000340855.10:c.880-23_880-22insGTGTTGGGTGTGTTTGG	ENSP00000339801.6:n.880-23_880-22insGTGTTGGGTGTGTTTGG
ENST00000370441.8:c.880-23_880-22insGTGTTGGGTGTGTTTGG	ENSP00000359470.4:n.880-23_880-22insGTGTTGGGTGTGTTTGG
ENST00000422081.6:c.247-23_247-22insGTGTTGGGTGTGTTTGG	ENSP00000477056.1:n.247-23_247-22insGTGTTGGGTGTGTTTGG
ENST00000441880.1:n.114-3365_114-3364insGTGTTGGGTGTGTTTGG
ENST00000464251.5:c.806-23_806-22insGTGTTGGGTGTGTTTGG	ENSP00000428980.1:n.806-23_806-22insGTGTTGGGTGTGTTTGG
ENST00000466323.5:c.*71-23_*71-22insGTGTTGGGTGTGTTTGG	ENSP00000418264.1:n.*71-23_*71-22insGTGTTGGGTGTGTTTGG
ENST00000490775.5:n.665-23_665-22insGTGTTGGGTGTGTTTGG
NM_000202.6:c.880-23_880-22insGTGTTGGGTGTGTTTGG	NP_000193.1:n.880-23_880-22insGTGTTGGGTGTGTTTGG
NM_001166550.2:c.610-23_610-22insGTGTTGGGTGTGTTTGG	NP_001160022.1:n.610-23_610-22insGTGTTGGGTGTGTTTGG
NM_006123.4:c.880-23_880-22insGTGTTGGGTGTGTTTGG	NP_006114.1:n.880-23_880-22insGTGTTGGGTGTGTTTGG
NR_104128.1:n.1227-23_1227-22insGTGTTGGGTGTGTTTGG
NM_000202.7:c.880-23_880-22insGTGTTGGGTGTGTTTGG	NP_000193.1:n.880-23_880-22insGTGTTGGGTGTGTTTGG
NM_001166550.3:c.610-23_610-22insGTGTTGGGTGTGTTTGG	NP_001160022.1:n.610-23_610-22insGTGTTGGGTGTGTTTGG
NM_000202.8:c.880-23_880-22insGTGTTGGGTGTGTTTGG MANE Select	NP_000193.1:n.880-23_880-22insGTGTTGGGTGTGTTTGG
NM_001166550.4:c.610-23_610-22insGTGTTGGGTGTGTTTGG	NP_001160022.1:n.610-23_610-22insGTGTTGGGTGTGTTTGG
NM_006123.5:c.880-23_880-22insGTGTTGGGTGTGTTTGG	NP_006114.1:n.880-23_880-22insGTGTTGGGTGTGTTTGG
NR_104128.2:n.1179-23_1179-22insGTGTTGGGTGTGTTTGG