Canonical Allele Identifier: CA2695236529
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149487058_149487065del , CM000685.2:g.149487058_149487065del GRCh38
NC_000023.10:g.148568589_148568596del , CM000685.1:g.148568589_148568596del GRCh37
NC_000023.9:g.148376494_148376501del NCBI36
NG_011900.3:g.23273_23280del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1043_1050del MANE Select ENSP00000339801.6:p.Tyr348PhefsTer2
ENST00000651111.1:c.410_417del ENSP00000498395.1:p.Tyr137PhefsTer2
ENST00000340855.10:c.1043_1050del ENSP00000339801.6:p.Tyr348PhefsTer2
ENST00000422081.6:c.410_417del ENSP00000477056.1:p.Tyr137PhefsTer2
ENST00000441880.1:n.150_157del
NM_000202.6:c.1043_1050del NP_000193.1:p.Tyr348PhefsTer2
NM_001166550.2:c.773_780del NP_001160022.1:p.Tyr258PhefsTer2
NM_000202.7:c.1043_1050del NP_000193.1:p.Tyr348PhefsTer2
NM_001166550.3:c.773_780del NP_001160022.1:p.Tyr258PhefsTer2
NM_000202.8:c.1043_1050del MANE Select NP_000193.1:p.Tyr348PhefsTer2
NM_001166550.4:c.773_780del NP_001160022.1:p.Tyr258PhefsTer2