Canonical Allele Identifier: CA2499226409

Gene: IDS

Linked Data

• ClinVar Variation Id: 1065198
• ClinVar RCV Id: RCV001375673
• dbSNP Id: rs2123994237

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482957delinsGA , CM000685.2:g.149482957delinsGA	GRCh38
NC_000023.10:g.148564488delinsGA , CM000685.1:g.148564488delinsGA	GRCh37
NC_000023.9:g.148372393delinsGA	NCBI36
NG_011900.3:g.27378delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1442delinsTC MANE Select	ENSP00000339801.6:p.Ser481IlefsTer18
ENST00000651111.1:c.809delinsTC	ENSP00000498395.1:p.Ser270IlefsTer18
ENST00000340855.10:c.1442delinsTC	ENSP00000339801.6:p.Ser481IlefsTer18
ENST00000422081.6:c.809delinsTC	ENSP00000477056.1:p.Ser270IlefsTer18
NM_000202.6:c.1442delinsTC	NP_000193.1:p.Ser481IlefsTer18
NM_001166550.2:c.1172delinsTC	NP_001160022.1:p.Ser391IlefsTer18
NM_000202.7:c.1442delinsTC	NP_000193.1:p.Ser481IlefsTer18
NM_001166550.3:c.1172delinsTC	NP_001160022.1:p.Ser391IlefsTer18
NM_000202.8:c.1442delinsTC MANE Select	NP_000193.1:p.Ser481IlefsTer18
NM_001166550.4:c.1172delinsTC	NP_001160022.1:p.Ser391IlefsTer18