Canonical Allele Identifier: CA2838031995

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482918_149482919insAATACCTATATAGTATTCCATATAGTATATGGAATA , CM000685.2:g.149482918_149482919insAATACCTATATAGTATTCCATATAGTATATGGAATA	GRCh38
NC_000023.10:g.148564449_148564450insAATACCTATATAGTATTCCATATAGTATATGGAATA , CM000685.1:g.148564449_148564450insAATACCTATATAGTATTCCATATAGTATATGGAATA	GRCh37
NC_000023.9:g.148372354_148372355insAATACCTATATAGTATTCCATATAGTATATGGAATA	NCBI36
NG_011900.3:g.27416_27417insTATTCCATATACTATATGGAATACTATATAGGTATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1480_1481insTATTCCATATACTATATGGAATACTATATAGGTATT MANE Select	ENSP00000339801.6:p.Thr494delinsIlePheHisIleLeuTyrGlyIleLeuTy...
ENST00000651111.1:c.847_848insTATTCCATATACTATATGGAATACTATATAGGTATT	ENSP00000498395.1:p.Thr283delinsIlePheHisIleLeuTyrGlyIleLeuTy...
ENST00000340855.10:c.1480_1481insTATTCCATATACTATATGGAATACTATATAGGTATT	ENSP00000339801.6:p.Thr494delinsIlePheHisIleLeuTyrGlyIleLeuTy...
ENST00000422081.6:c.847_848insTATTCCATATACTATATGGAATACTATATAGGTATT	ENSP00000477056.1:p.Thr283delinsIlePheHisIleLeuTyrGlyIleLeuTy...
NM_000202.6:c.1480_1481insTATTCCATATACTATATGGAATACTATATAGGTATT	NP_000193.1:p.Thr494delinsIlePheHisIleLeuTyrGlyIleLeuTyrArgTy...
NM_001166550.2:c.1210_1211insTATTCCATATACTATATGGAATACTATATAGGTATT	NP_001160022.1:p.Thr404delinsIlePheHisIleLeuTyrGlyIleLeuTyrAr...
NM_000202.7:c.1480_1481insTATTCCATATACTATATGGAATACTATATAGGTATT	NP_000193.1:p.Thr494delinsIlePheHisIleLeuTyrGlyIleLeuTyrArgTy...
NM_001166550.3:c.1210_1211insTATTCCATATACTATATGGAATACTATATAGGTATT	NP_001160022.1:p.Thr404delinsIlePheHisIleLeuTyrGlyIleLeuTyrAr...
NM_000202.8:c.1480_1481insTATTCCATATACTATATGGAATACTATATAGGTATT MANE Select	NP_000193.1:p.Thr494delinsIlePheHisIleLeuTyrGlyIleLeuTyrArgTy...
NM_001166550.4:c.1210_1211insTATTCCATATACTATATGGAATACTATATAGGTATT	NP_001160022.1:p.Thr404delinsIlePheHisIleLeuTyrGlyIleLeuTyrAr...