Canonical Allele Identifier: CA2573159286

Gene: IDS

Linked Data

• ClinVar Variation Id: 1455705
• ClinVar RCV Id: RCV001946683
• dbSNP Id: rs2124648266

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482811dup , CM000685.2:g.149482811dup	GRCh38
NC_000023.10:g.148564342dup , CM000685.1:g.148564342dup	GRCh37
NC_000023.9:g.148372247dup	NCBI36
NG_011900.3:g.27525dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1589dup MANE Select	ENSP00000339801.6:p.Leu530PhefsTer8
ENST00000651111.1:c.956dup	ENSP00000498395.1:p.Leu319PhefsTer8
ENST00000340855.10:c.1589dup	ENSP00000339801.6:p.Leu530PhefsTer8
ENST00000422081.6:c.956dup	ENSP00000477056.1:p.Leu319PhefsTer8
NM_000202.6:c.1589dup	NP_000193.1:p.Leu530PhefsTer8
NM_001166550.2:c.1319dup	NP_001160022.1:p.Leu440PhefsTer8
NM_000202.7:c.1589dup	NP_000193.1:p.Leu530PhefsTer8
NM_001166550.3:c.1319dup	NP_001160022.1:p.Leu440PhefsTer8
NM_000202.8:c.1589dup MANE Select	NP_000193.1:p.Leu530PhefsTer8
NM_001166550.4:c.1319dup	NP_001160022.1:p.Leu440PhefsTer8