Canonical Allele Identifier: CA2838031999
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498226del , CM000685.2:g.149498226del GRCh38
NC_000023.10:g.148579757del , CM000685.1:g.148579757del GRCh37
NC_000023.9:g.148387662del NCBI36
NG_011900.3:g.12110del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.590del MANE Select ENSP00000339801.6:p.Pro197LeufsTer16
ENST00000651111.1:c.-44del ENSP00000498395.1:n.-44del
ENST00000340855.10:c.590del ENSP00000339801.6:p.Pro197LeufsTer16
ENST00000370441.8:c.590del ENSP00000359470.4:p.Pro197LeufsTer16
ENST00000422081.6:c.-44del ENSP00000477056.1:n.-44del
ENST00000441880.1:n.114-11127del
ENST00000464251.5:c.516del ENSP00000428980.1:n.516del
ENST00000466019.1:n.42del
ENST00000466323.5:c.590del ENSP00000418264.1:p.Pro197LeufsTer16
ENST00000490775.5:n.375del
ENST00000523759.5:n.704del
NM_000202.6:c.590del NP_000193.1:p.Pro197LeufsTer16
NM_001166550.2:c.320del NP_001160022.1:p.Pro107LeufsTer16
NM_006123.4:c.590del NP_006114.1:p.Pro197LeufsTer16
NR_104128.1:n.807del
NM_000202.7:c.590del NP_000193.1:p.Pro197LeufsTer16
NM_001166550.3:c.320del NP_001160022.1:p.Pro107LeufsTer16
NM_000202.8:c.590del MANE Select NP_000193.1:p.Pro197LeufsTer16
NM_001166550.4:c.320del NP_001160022.1:p.Pro107LeufsTer16
NM_006123.5:c.590del NP_006114.1:p.Pro197LeufsTer16
NR_104128.2:n.759del