Canonical Allele Identifier: CA2695236594
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149503407_149503409del , CM000685.2:g.149503407_149503409del GRCh38
NC_000023.10:g.148584937_148584939del , CM000685.1:g.148584937_148584939del GRCh37
NC_000023.9:g.148392842_148392844del NCBI36
NG_011900.3:g.6928_6930del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.323_325del MANE Select ENSP00000339801.6:p.Tyr108del
ENST00000651111.1:c.-215-2370_-215-2368del ENSP00000498395.1:n.-215-2370_-215-2368del
ENST00000340855.10:c.323_325del ENSP00000339801.6:p.Tyr108del
ENST00000370441.8:c.323_325del ENSP00000359470.4:p.Tyr108del
ENST00000422081.6:c.-215-2370_-215-2368del ENSP00000477056.1:n.-215-2370_-215-2368del
ENST00000427113.2:n.770-1184_770-1182del
ENST00000428056.6:c.323_325del ENSP00000390241.2:p.Tyr108del
ENST00000441880.1:n.114-16309_114-16307del
ENST00000464251.5:c.146_148del ENSP00000428980.1:p.Tyr49del
ENST00000466323.5:c.323_325del ENSP00000418264.1:p.Tyr108del
ENST00000523759.5:n.533-2370_533-2368del
NM_000202.6:c.323_325del NP_000193.1:p.Tyr108del
NM_001166550.2:c.53_55del NP_001160022.1:p.Tyr18del
NM_006123.4:c.323_325del NP_006114.1:p.Tyr108del
NR_104128.1:n.540_542del
NM_000202.7:c.323_325del NP_000193.1:p.Tyr108del
NM_001166550.3:c.53_55del NP_001160022.1:p.Tyr18del
NM_000202.8:c.323_325del MANE Select NP_000193.1:p.Tyr108del
NM_001166550.4:c.53_55del NP_001160022.1:p.Tyr18del
NM_006123.5:c.323_325del NP_006114.1:p.Tyr108del
NR_104128.2:n.492_494del