Canonical Allele Identifier: CA2695236591
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149503393_149503418del , CM000685.2:g.149503393_149503418del GRCh38
NC_000023.10:g.148584923_148584948del , CM000685.1:g.148584923_148584948del GRCh37
NC_000023.9:g.148392828_148392853del NCBI36
NG_011900.3:g.6919_6944del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.314_339del MANE Select ENSP00000339801.6:p.Phe105TrpfsTer?
ENST00000651111.1:c.-215-2379_-215-2354del ENSP00000498395.1:n.-215-2379_-215-2354del
ENST00000340855.10:c.314_339del ENSP00000339801.6:p.Phe105TrpfsTer?
ENST00000370441.8:c.314_339del ENSP00000359470.4:p.Phe105TrpfsTer?
ENST00000422081.6:c.-215-2379_-215-2354del ENSP00000477056.1:n.-215-2379_-215-2354del
ENST00000427113.2:n.770-1193_770-1168del
ENST00000428056.6:c.314_339del ENSP00000390241.2:p.Phe105TrpfsTer?
ENST00000441880.1:n.114-16318_114-16293del
ENST00000464251.5:c.137_162del ENSP00000428980.1:p.Phe46TrpfsTer?
ENST00000466323.5:c.314_339del ENSP00000418264.1:p.Phe105TrpfsTer?
ENST00000523759.5:n.533-2379_533-2354del
NM_000202.6:c.314_339del NP_000193.1:p.Phe105TrpfsTer?
NM_001166550.2:c.44_69del NP_001160022.1:p.Phe15TrpfsTer?
NM_006123.4:c.314_339del NP_006114.1:p.Phe105TrpfsTer?
NR_104128.1:n.531_556del
NM_000202.7:c.314_339del NP_000193.1:p.Phe105TrpfsTer?
NM_001166550.3:c.44_69del NP_001160022.1:p.Phe15TrpfsTer?
NM_000202.8:c.314_339del MANE Select NP_000193.1:p.Phe105TrpfsTer?
NM_001166550.4:c.44_69del NP_001160022.1:p.Phe15TrpfsTer?
NM_006123.5:c.314_339del NP_006114.1:p.Phe105TrpfsTer?
NR_104128.2:n.483_508del