Canonical Allele Identifier: CA2465003971

Gene: IDS

Linked Data

• ClinVar Variation Id: 988704
• ClinVar RCV Id: RCV001291028
• dbSNP Id: rs2089304532

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482909_149482910dup , CM000685.2:g.149482909_149482910dup	GRCh38
NC_000023.10:g.148564440_148564441dup , CM000685.1:g.148564440_148564441dup	GRCh37
NC_000023.9:g.148372345_148372346dup	NCBI36
NG_011900.3:g.27427_27428dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1491_1492dup MANE Select	ENSP00000339801.6:p.Arg498IlefsTer15
ENST00000651111.1:c.858_859dup	ENSP00000498395.1:p.Arg287IlefsTer15
ENST00000340855.10:c.1491_1492dup	ENSP00000339801.6:p.Arg498IlefsTer15
ENST00000422081.6:c.858_859dup	ENSP00000477056.1:p.Arg287IlefsTer15
NM_000202.6:c.1491_1492dup	NP_000193.1:p.Arg498IlefsTer15
NM_001166550.2:c.1221_1222dup	NP_001160022.1:p.Arg408IlefsTer15
NM_000202.7:c.1491_1492dup	NP_000193.1:p.Arg498IlefsTer15
NM_001166550.3:c.1221_1222dup	NP_001160022.1:p.Arg408IlefsTer15
NM_000202.8:c.1491_1492dup MANE Select	NP_000193.1:p.Arg498IlefsTer15
NM_001166550.4:c.1221_1222dup	NP_001160022.1:p.Arg408IlefsTer15