Canonical Allele Identifier: CA2695236559
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149500997_149501003del , CM000685.2:g.149500997_149501003del GRCh38
NC_000023.10:g.148582528_148582534del , CM000685.1:g.148582528_148582534del GRCh37
NC_000023.9:g.148390433_148390439del NCBI36
NG_011900.3:g.9333_9339del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.454_460del MANE Select ENSP00000339801.6:p.Ser152LeufsTer?
ENST00000651111.1:c.-180_-174del ENSP00000498395.1:n.-180_-174del
ENST00000340855.10:c.454_460del ENSP00000339801.6:p.Ser152LeufsTer?
ENST00000370441.8:c.454_460del ENSP00000359470.4:p.Ser152LeufsTer?
ENST00000422081.6:c.-180_-174del ENSP00000477056.1:n.-180_-174del
ENST00000441880.1:n.114-13904_114-13898del
ENST00000464251.5:c.380_386del ENSP00000428980.1:n.380_386del
ENST00000466323.5:c.454_460del ENSP00000418264.1:p.Ser152LeufsTer?
ENST00000490775.5:n.113_119del
ENST00000523759.5:n.568_574del
NM_000202.6:c.454_460del NP_000193.1:p.Ser152LeufsTer?
NM_001166550.2:c.184_190del NP_001160022.1:p.Ser62LeufsTer?
NM_006123.4:c.454_460del NP_006114.1:p.Ser152LeufsTer?
NR_104128.1:n.671_677del
NM_000202.7:c.454_460del NP_000193.1:p.Ser152LeufsTer?
NM_001166550.3:c.184_190del NP_001160022.1:p.Ser62LeufsTer?
NM_000202.8:c.454_460del MANE Select NP_000193.1:p.Ser152LeufsTer?
NM_001166550.4:c.184_190del NP_001160022.1:p.Ser62LeufsTer?
NM_006123.5:c.454_460del NP_006114.1:p.Ser152LeufsTer?
NR_104128.2:n.623_629del