Canonical Allele Identifier: CA2695236495

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482996_149483004dup , CM000685.2:g.149482996_149483004dup	GRCh38
NC_000023.10:g.148564527_148564535dup , CM000685.1:g.148564527_148564535dup	GRCh37
NC_000023.9:g.148372432_148372440dup	NCBI36
NG_011900.3:g.27332_27340dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1396_1404dup MANE Select	ENSP00000339801.6:p.Arg468_Pro469insTyrProArg
ENST00000651111.1:c.763_771dup	ENSP00000498395.1:p.Arg257_Pro258insTyrProArg
ENST00000340855.10:c.1396_1404dup	ENSP00000339801.6:p.Arg468_Pro469insTyrProArg
ENST00000422081.6:c.763_771dup	ENSP00000477056.1:p.Arg257_Pro258insTyrProArg
NM_000202.6:c.1396_1404dup	NP_000193.1:p.Arg468_Pro469insTyrProArg
NM_001166550.2:c.1126_1134dup	NP_001160022.1:p.Arg378_Pro379insTyrProArg
NM_000202.7:c.1396_1404dup	NP_000193.1:p.Arg468_Pro469insTyrProArg
NM_001166550.3:c.1126_1134dup	NP_001160022.1:p.Arg378_Pro379insTyrProArg
NM_000202.8:c.1396_1404dup MANE Select	NP_000193.1:p.Arg468_Pro469insTyrProArg
NM_001166550.4:c.1126_1134dup	NP_001160022.1:p.Arg378_Pro379insTyrProArg