Canonical Allele Identifier: CA2465006810
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490450_149490451delinsGA , CM000685.2:g.149490450_149490451delinsGA GRCh38
NC_000023.10:g.148571981_148571982delinsGA , CM000685.1:g.148571981_148571982delinsGA GRCh37
NC_000023.9:g.148379886_148379887delinsGA NCBI36
NG_011900.3:g.19884_19885delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.880-11_880-10delinsTC MANE Select ENSP00000339801.6:n.880-11_880-10delinsTC
ENST00000651111.1:c.247-11_247-10delinsTC ENSP00000498395.1:n.247-11_247-10delinsTC
ENST00000340855.10:c.880-11_880-10delinsTC ENSP00000339801.6:n.880-11_880-10delinsTC
ENST00000370441.8:c.880-11_880-10delinsTC ENSP00000359470.4:n.880-11_880-10delinsTC
ENST00000422081.6:c.247-11_247-10delinsTC ENSP00000477056.1:n.247-11_247-10delinsTC
ENST00000441880.1:n.114-3353_114-3352delinsTC
ENST00000464251.5:c.806-11_806-10delinsTC ENSP00000428980.1:n.806-11_806-10delinsTC
ENST00000466323.5:c.*71-11_*71-10delinsTC ENSP00000418264.1:n.*71-11_*71-10delinsTC
ENST00000490775.5:n.665-11_665-10delinsTC
NM_000202.6:c.880-11_880-10delinsTC NP_000193.1:n.880-11_880-10delinsTC
NM_001166550.2:c.610-11_610-10delinsTC NP_001160022.1:n.610-11_610-10delinsTC
NM_006123.4:c.880-11_880-10delinsTC NP_006114.1:n.880-11_880-10delinsTC
NR_104128.1:n.1227-11_1227-10delinsTC
NM_000202.7:c.880-11_880-10delinsTC NP_000193.1:n.880-11_880-10delinsTC
NM_001166550.3:c.610-11_610-10delinsTC NP_001160022.1:n.610-11_610-10delinsTC
NM_000202.8:c.880-11_880-10delinsTC MANE Select NP_000193.1:n.880-11_880-10delinsTC
NM_001166550.4:c.610-11_610-10delinsTC NP_001160022.1:n.610-11_610-10delinsTC
NM_006123.5:c.880-11_880-10delinsTC NP_006114.1:n.880-11_880-10delinsTC
NR_104128.2:n.1179-11_1179-10delinsTC