Canonical Allele Identifier: CA2695236573
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490384del , CM000685.2:g.149490384del GRCh38
NC_000023.10:g.148571915del , CM000685.1:g.148571915del GRCh37
NC_000023.9:g.148379820del NCBI36
NG_011900.3:g.19952del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.937del MANE Select ENSP00000339801.6:p.Arg313AlafsTer3
ENST00000651111.1:c.304del ENSP00000498395.1:p.Arg102AlafsTer3
ENST00000340855.10:c.937del ENSP00000339801.6:p.Arg313AlafsTer3
ENST00000370441.8:c.937del ENSP00000359470.4:p.Arg313AlafsTer3
ENST00000422081.6:c.304del ENSP00000477056.1:p.Arg102AlafsTer3
ENST00000441880.1:n.114-3285del
ENST00000464251.5:c.863del ENSP00000428980.1:n.863del
ENST00000466323.5:c.*128del ENSP00000418264.1:n.*128del
ENST00000490775.5:n.722del
NM_000202.6:c.937del NP_000193.1:p.Arg313AlafsTer3
NM_001166550.2:c.667del NP_001160022.1:p.Arg223AlafsTer3
NM_006123.4:c.937del NP_006114.1:p.Arg313AlafsTer3
NR_104128.1:n.1284del
NM_000202.7:c.937del NP_000193.1:p.Arg313AlafsTer3
NM_001166550.3:c.667del NP_001160022.1:p.Arg223AlafsTer3
NM_000202.8:c.937del MANE Select NP_000193.1:p.Arg313AlafsTer3
NM_001166550.4:c.667del NP_001160022.1:p.Arg223AlafsTer3
NM_006123.5:c.937del NP_006114.1:p.Arg313AlafsTer3
NR_104128.2:n.1236del