Canonical Allele Identifier: CA1138320185

Gene: IDS

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490728_149490729insCCCTCACATATTCTGATGGGTTCCAAGAGATGAACATGTACACAGAAACTGATCCTTCA , CM000685.2:g.149490728_149490729insCCCTCACATATTCTGATGGGTTCCAAGAGATGAACATGTACACAGAAACTGATCCTTCA	GRCh38
NC_000023.10:g.148572259_148572260insCCCTCACATATTCTGATGGGTTCCAAGAGATGAACATGTACACAGAAACTGATCCTTCA , CM000685.1:g.148572259_148572260insCCCTCACATATTCTGATGGGTTCCAAGAGATGAACATGTACACAGAAACTGATCCTTCA	GRCh37
NC_000023.9:g.148380164_148380165insCCCTCACATATTCTGATGGGTTCCAAGAGATGAACATGTACACAGAAACTGATCCTTCA	NCBI36
NG_011900.3:g.19606_19607insTGAAGGATCAGTTTCTGTGTACATGTTCATCTCTTGGAACCCATCAGAATATGTGAGGG

Transcript Alleles

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