Canonical Allele Identifier: CA2465006940
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490860_149490861delinsCT , CM000685.2:g.149490860_149490861delinsCT GRCh38
NC_000023.10:g.148572391_148572392delinsCT , CM000685.1:g.148572391_148572392delinsCT GRCh37
NC_000023.9:g.148380296_148380297delinsCT NCBI36
NG_011900.3:g.19474_19475delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.880-421_880-420delinsAG MANE Select ENSP00000339801.6:n.880-421_880-420delinsAG
ENST00000651111.1:c.247-421_247-420delinsAG ENSP00000498395.1:n.247-421_247-420delinsAG
ENST00000340855.10:c.880-421_880-420delinsAG ENSP00000339801.6:n.880-421_880-420delinsAG
ENST00000370441.8:c.880-421_880-420delinsAG ENSP00000359470.4:n.880-421_880-420delinsAG
ENST00000422081.6:c.247-421_247-420delinsAG ENSP00000477056.1:n.247-421_247-420delinsAG
ENST00000441880.1:n.114-3763_114-3762delinsAG
ENST00000464251.5:c.806-421_806-420delinsAG ENSP00000428980.1:n.806-421_806-420delinsAG
ENST00000466323.5:c.*71-421_*71-420delinsAG ENSP00000418264.1:n.*71-421_*71-420delinsAG
ENST00000490775.5:n.665-421_665-420delinsAG
NM_000202.6:c.880-421_880-420delinsAG NP_000193.1:n.880-421_880-420delinsAG
NM_001166550.2:c.610-421_610-420delinsAG NP_001160022.1:n.610-421_610-420delinsAG
NM_006123.4:c.880-421_880-420delinsAG NP_006114.1:n.880-421_880-420delinsAG
NR_104128.1:n.1227-421_1227-420delinsAG
NM_000202.7:c.880-421_880-420delinsAG NP_000193.1:n.880-421_880-420delinsAG
NM_001166550.3:c.610-421_610-420delinsAG NP_001160022.1:n.610-421_610-420delinsAG
NM_000202.8:c.880-421_880-420delinsAG MANE Select NP_000193.1:n.880-421_880-420delinsAG
NM_001166550.4:c.610-421_610-420delinsAG NP_001160022.1:n.610-421_610-420delinsAG
NM_006123.5:c.880-421_880-420delinsAG NP_006114.1:n.880-421_880-420delinsAG
NR_104128.2:n.1179-421_1179-420delinsAG