Canonical Allele Identifier: CA2695236500
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149483009dup , CM000685.2:g.149483009dup GRCh38
NC_000023.10:g.148564540dup , CM000685.1:g.148564540dup GRCh37
NC_000023.9:g.148372445dup NCBI36
NG_011900.3:g.27326dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1390dup MANE Select ENSP00000339801.6:p.Ser464LysfsTer15
ENST00000651111.1:c.757dup ENSP00000498395.1:p.Ser253LysfsTer15
ENST00000340855.10:c.1390dup ENSP00000339801.6:p.Ser464LysfsTer15
ENST00000422081.6:c.757dup ENSP00000477056.1:p.Ser253LysfsTer15
NM_000202.6:c.1390dup NP_000193.1:p.Ser464LysfsTer15
NM_001166550.2:c.1120dup NP_001160022.1:p.Ser374LysfsTer15
NM_000202.7:c.1390dup NP_000193.1:p.Ser464LysfsTer15
NM_001166550.3:c.1120dup NP_001160022.1:p.Ser374LysfsTer15
NM_000202.8:c.1390dup MANE Select NP_000193.1:p.Ser464LysfsTer15
NM_001166550.4:c.1120dup NP_001160022.1:p.Ser374LysfsTer15