Canonical Allele Identifier: CA2694899097
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149503137_149503139del , CM000685.2:g.149503137_149503139del GRCh38
NC_000023.10:g.148584667_148584669del , CM000685.1:g.148584667_148584669del GRCh37
NC_000023.9:g.148392572_148392574del NCBI36
NG_011900.3:g.7196_7198del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.418+173_418+175del MANE Select ENSP00000339801.6:n.418+173_418+175del
ENST00000651111.1:c.-215-2102_-215-2100del ENSP00000498395.1:n.-215-2102_-215-2100del
ENST00000340855.10:c.418+173_418+175del ENSP00000339801.6:n.418+173_418+175del
ENST00000370441.8:c.418+173_418+175del ENSP00000359470.4:n.418+173_418+175del
ENST00000422081.6:c.-215-2102_-215-2100del ENSP00000477056.1:n.-215-2102_-215-2100del
ENST00000427113.2:n.770-916_770-914del
ENST00000428056.6:c.*51_*53del ENSP00000390241.2:n.*51_*53del
ENST00000441880.1:n.114-16041_114-16039del
ENST00000464251.5:c.241+173_241+175del ENSP00000428980.1:n.241+173_241+175del
ENST00000466323.5:c.418+173_418+175del ENSP00000418264.1:n.418+173_418+175del
ENST00000490775.5:n.77+173_77+175del
ENST00000523759.5:n.533-2102_533-2100del
NM_000202.6:c.418+173_418+175del NP_000193.1:n.418+173_418+175del
NM_001166550.2:c.148+173_148+175del NP_001160022.1:n.148+173_148+175del
NM_006123.4:c.418+173_418+175del NP_006114.1:n.418+173_418+175del
NR_104128.1:n.635+173_635+175del
NM_000202.7:c.418+173_418+175del NP_000193.1:n.418+173_418+175del
NM_001166550.3:c.148+173_148+175del NP_001160022.1:n.148+173_148+175del
NM_000202.8:c.418+173_418+175del MANE Select NP_000193.1:n.418+173_418+175del
NM_001166550.4:c.148+173_148+175del NP_001160022.1:n.148+173_148+175del
NM_006123.5:c.418+173_418+175del NP_006114.1:n.418+173_418+175del
NR_104128.2:n.587+173_587+175del