Canonical Allele Identifier: CA2579719260
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498168del , CM000685.2:g.149498168del GRCh38
NC_000023.10:g.148579699del , CM000685.1:g.148579699del GRCh37
NC_000023.9:g.148387604del NCBI36
NG_011900.3:g.12168del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.648del MANE Select ENSP00000339801.6:p.Ser217ValfsTer?
ENST00000651111.1:c.15del ENSP00000498395.1:p.Ser6ValfsTer?
ENST00000340855.10:c.648del ENSP00000339801.6:p.Ser217ValfsTer?
ENST00000370441.8:c.648del ENSP00000359470.4:p.Ser217ValfsTer?
ENST00000422081.6:c.15del ENSP00000477056.1:p.Ser6ValfsTer?
ENST00000441880.1:n.114-11069del
ENST00000464251.5:c.574del ENSP00000428980.1:n.574del
ENST00000466019.1:n.100del
ENST00000466323.5:c.648del ENSP00000418264.1:p.Ser217ValfsTer?
ENST00000490775.5:n.433del
NM_000202.6:c.648del NP_000193.1:p.Ser217ValfsTer?
NM_001166550.2:c.378del NP_001160022.1:p.Ser127ValfsTer?
NM_006123.4:c.648del NP_006114.1:p.Ser217ValfsTer?
NR_104128.1:n.865del
NM_000202.7:c.648del NP_000193.1:p.Ser217ValfsTer?
NM_001166550.3:c.378del NP_001160022.1:p.Ser127ValfsTer?
NM_000202.8:c.648del MANE Select NP_000193.1:p.Ser217ValfsTer?
NM_001166550.4:c.378del NP_001160022.1:p.Ser127ValfsTer?
NM_006123.5:c.648del NP_006114.1:p.Ser217ValfsTer?
NR_104128.2:n.817del