Canonical Allele Identifier: CA2695236614
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149503483del , CM000685.2:g.149503483del GRCh38
NC_000023.10:g.148585013del , CM000685.1:g.148585013del GRCh37
NC_000023.9:g.148392918del NCBI36
NG_011900.3:g.6852del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.247del MANE Select ENSP00000339801.6:p.Val83CysfsTer?
ENST00000651111.1:c.-215-2446del ENSP00000498395.1:n.-215-2446del
ENST00000340855.10:c.247del ENSP00000339801.6:p.Val83CysfsTer?
ENST00000370441.8:c.247del ENSP00000359470.4:p.Val83CysfsTer?
ENST00000422081.6:c.-215-2446del ENSP00000477056.1:n.-215-2446del
ENST00000427113.2:n.770-1260del
ENST00000428056.6:c.247del ENSP00000390241.2:p.Val83CysfsTer?
ENST00000441880.1:n.114-16385del
ENST00000464251.5:c.70del ENSP00000428980.1:p.Val24CysfsTer?
ENST00000466323.5:c.247del ENSP00000418264.1:p.Val83CysfsTer?
ENST00000521702.1:c.247del ENSP00000429745.1:p.Val83CysfsTer?
ENST00000523759.5:n.533-2446del
NM_000202.6:c.247del NP_000193.1:p.Val83CysfsTer?
NM_001166550.2:c.15-38del NP_001160022.1:n.15-38del
NM_006123.4:c.247del NP_006114.1:p.Val83CysfsTer?
NR_104128.1:n.464del
NM_000202.7:c.247del NP_000193.1:p.Val83CysfsTer?
NM_001166550.3:c.15-38del NP_001160022.1:n.15-38del
NM_000202.8:c.247del MANE Select NP_000193.1:p.Val83CysfsTer?
NM_001166550.4:c.15-38del NP_001160022.1:n.15-38del
NM_006123.5:c.247del NP_006114.1:p.Val83CysfsTer?
NR_104128.2:n.416del