Canonical Allele Identifier: CA2499226408
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 1065519
ClinVar RCV Id: RCV001376069
dbSNP Id: rs2123994213
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149482943_149482964dup , CM000685.2:g.149482943_149482964dup GRCh38
NC_000023.10:g.148564474_148564495dup , CM000685.1:g.148564474_148564495dup GRCh37
NC_000023.9:g.148372379_148372400dup NCBI36
NG_011900.3:g.27372_27393dup

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.1436_1457dup MANE Select ENSP00000339801.6:p.Ile487AlafsTer19
ENST00000651111.1:c.803_824dup ENSP00000498395.1:p.Ile276AlafsTer19
ENST00000340855.10:c.1436_1457dup ENSP00000339801.6:p.Ile487AlafsTer19
ENST00000422081.6:c.803_824dup ENSP00000477056.1:p.Ile276AlafsTer19
NM_000202.6:c.1436_1457dup NP_000193.1:p.Ile487AlafsTer19
NM_001166550.2:c.1166_1187dup NP_001160022.1:p.Ile397AlafsTer19
NM_000202.7:c.1436_1457dup NP_000193.1:p.Ile487AlafsTer19
NM_001166550.3:c.1166_1187dup NP_001160022.1:p.Ile397AlafsTer19
NM_000202.8:c.1436_1457dup MANE Select NP_000193.1:p.Ile487AlafsTer19
NM_001166550.4:c.1166_1187dup NP_001160022.1:p.Ile397AlafsTer19
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