Canonical Allele Identifier: CA1138320180

Gene: IDS

Linked Data

• gnomAD v3: X-149490728-T-TCCCTCACATATTCTGATGG
• gnomAD v4: X-149490728-T-TCCCTCACATATTCTGATGG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490728_149490729insCCCTCACATATTCTGATGG , CM000685.2:g.149490728_149490729insCCCTCACATATTCTGATGG	GRCh38
NC_000023.10:g.148572259_148572260insCCCTCACATATTCTGATGG , CM000685.1:g.148572259_148572260insCCCTCACATATTCTGATGG	GRCh37
NC_000023.9:g.148380164_148380165insCCCTCACATATTCTGATGG	NCBI36
NG_011900.3:g.19606_19607insCCATCAGAATATGTGAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.880-289_880-288insCCATCAGAATATGTGAGGG MANE Select	ENSP00000339801.6:n.880-289_880-288insCCATCAGAATATGTGAGGG
ENST00000651111.1:c.247-289_247-288insCCATCAGAATATGTGAGGG	ENSP00000498395.1:n.247-289_247-288insCCATCAGAATATGTGAGGG
ENST00000340855.10:c.880-289_880-288insCCATCAGAATATGTGAGGG	ENSP00000339801.6:n.880-289_880-288insCCATCAGAATATGTGAGGG
ENST00000370441.8:c.880-289_880-288insCCATCAGAATATGTGAGGG	ENSP00000359470.4:n.880-289_880-288insCCATCAGAATATGTGAGGG
ENST00000422081.6:c.247-289_247-288insCCATCAGAATATGTGAGGG	ENSP00000477056.1:n.247-289_247-288insCCATCAGAATATGTGAGGG
ENST00000441880.1:n.114-3631_114-3630insCCATCAGAATATGTGAGGG
ENST00000464251.5:c.806-289_806-288insCCATCAGAATATGTGAGGG	ENSP00000428980.1:n.806-289_806-288insCCATCAGAATATGTGAGGG
ENST00000466323.5:c.*71-289_*71-288insCCATCAGAATATGTGAGGG	ENSP00000418264.1:n.*71-289_*71-288insCCATCAGAATATGTGAGGG
ENST00000490775.5:n.665-289_665-288insCCATCAGAATATGTGAGGG
NM_000202.6:c.880-289_880-288insCCATCAGAATATGTGAGGG	NP_000193.1:n.880-289_880-288insCCATCAGAATATGTGAGGG
NM_001166550.2:c.610-289_610-288insCCATCAGAATATGTGAGGG	NP_001160022.1:n.610-289_610-288insCCATCAGAATATGTGAGGG
NM_006123.4:c.880-289_880-288insCCATCAGAATATGTGAGGG	NP_006114.1:n.880-289_880-288insCCATCAGAATATGTGAGGG
NR_104128.1:n.1227-289_1227-288insCCATCAGAATATGTGAGGG
NM_000202.7:c.880-289_880-288insCCATCAGAATATGTGAGGG	NP_000193.1:n.880-289_880-288insCCATCAGAATATGTGAGGG
NM_001166550.3:c.610-289_610-288insCCATCAGAATATGTGAGGG	NP_001160022.1:n.610-289_610-288insCCATCAGAATATGTGAGGG
NM_000202.8:c.880-289_880-288insCCATCAGAATATGTGAGGG MANE Select	NP_000193.1:n.880-289_880-288insCCATCAGAATATGTGAGGG
NM_001166550.4:c.610-289_610-288insCCATCAGAATATGTGAGGG	NP_001160022.1:n.610-289_610-288insCCATCAGAATATGTGAGGG
NM_006123.5:c.880-289_880-288insCCATCAGAATATGTGAGGG	NP_006114.1:n.880-289_880-288insCCATCAGAATATGTGAGGG
NR_104128.2:n.1179-289_1179-288insCCATCAGAATATGTGAGGG