Canonical Allele Identifier: CA2739289623
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490416del , CM000685.2:g.149490416del GRCh38
NC_000023.10:g.148571947del , CM000685.1:g.148571947del GRCh37
NC_000023.9:g.148379852del NCBI36
NG_011900.3:g.19919del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.904del MANE Select ENSP00000339801.6:p.Ala302ProfsTer14
ENST00000651111.1:c.271del ENSP00000498395.1:p.Ala91ProfsTer14
ENST00000340855.10:c.904del ENSP00000339801.6:p.Ala302ProfsTer14
ENST00000370441.8:c.904del ENSP00000359470.4:p.Ala302ProfsTer14
ENST00000422081.6:c.271del ENSP00000477056.1:p.Ala91ProfsTer14
ENST00000441880.1:n.114-3318del
ENST00000464251.5:c.830del ENSP00000428980.1:n.830del
ENST00000466323.5:c.*95del ENSP00000418264.1:n.*95del
ENST00000490775.5:n.689del
NM_000202.6:c.904del NP_000193.1:p.Ala302ProfsTer14
NM_001166550.2:c.634del NP_001160022.1:p.Ala212ProfsTer14
NM_006123.4:c.904del NP_006114.1:p.Ala302ProfsTer14
NR_104128.1:n.1251del
NM_000202.7:c.904del NP_000193.1:p.Ala302ProfsTer14
NM_001166550.3:c.634del NP_001160022.1:p.Ala212ProfsTer14
NM_000202.8:c.904del MANE Select NP_000193.1:p.Ala302ProfsTer14
NM_001166550.4:c.634del NP_001160022.1:p.Ala212ProfsTer14
NM_006123.5:c.904del NP_006114.1:p.Ala302ProfsTer14
NR_104128.2:n.1203del