Canonical Allele Identifier: CA2695236483
Gene: IDS HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149482910dup , CM000685.2:g.149482910dup GRCh38
NC_000023.10:g.148564441dup , CM000685.1:g.148564441dup GRCh37
NC_000023.9:g.148372346dup NCBI36
NG_011900.3:g.27425dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1489dup MANE Select ENSP00000339801.6:p.Tyr497LeufsTer2
ENST00000651111.1:c.856dup ENSP00000498395.1:p.Tyr286LeufsTer2
ENST00000340855.10:c.1489dup ENSP00000339801.6:p.Tyr497LeufsTer2
ENST00000422081.6:c.856dup ENSP00000477056.1:p.Tyr286LeufsTer2
NM_000202.6:c.1489dup NP_000193.1:p.Tyr497LeufsTer2
NM_001166550.2:c.1219dup NP_001160022.1:p.Tyr407LeufsTer2
NM_000202.7:c.1489dup NP_000193.1:p.Tyr497LeufsTer2
NM_001166550.3:c.1219dup NP_001160022.1:p.Tyr407LeufsTer2
NM_000202.8:c.1489dup MANE Select NP_000193.1:p.Tyr497LeufsTer2
NM_001166550.4:c.1219dup NP_001160022.1:p.Tyr407LeufsTer2
Search 100 bp 5'
Search 100 bp 3'