Canonical Allele Identifier: CA2465009227
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498201_149498202delinsGC , CM000685.2:g.149498201_149498202delinsGC GRCh38
NC_000023.10:g.148579732_148579733delinsGC , CM000685.1:g.148579732_148579733delinsGC GRCh37
NC_000023.9:g.148387637_148387638delinsGC NCBI36
NG_011900.3:g.12133_12134delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.613_614delinsGC MANE Select ENSP00000339801.6:p.Ala205=
ENST00000651111.1:c.-21_-20delinsGC ENSP00000498395.1:n.-21_-20delinsGC
ENST00000340855.10:c.613_614delinsGC ENSP00000339801.6:p.Ala205=
ENST00000370441.8:c.613_614delinsGC ENSP00000359470.4:p.Ala205=
ENST00000422081.6:c.-21_-20delinsGC ENSP00000477056.1:n.-21_-20delinsGC
ENST00000441880.1:n.114-11104_114-11103delinsGC
ENST00000464251.5:c.539_540delinsGC ENSP00000428980.1:n.539_540delinsGC
ENST00000466019.1:n.65_66delinsGC
ENST00000466323.5:c.613_614delinsGC ENSP00000418264.1:p.Ala205=
ENST00000490775.5:n.398_399delinsGC
ENST00000523759.5:n.727_728delinsGC
NM_000202.6:c.613_614delinsGC NP_000193.1:p.Ala205=
NM_001166550.2:c.343_344delinsGC NP_001160022.1:p.Ala115=
NM_006123.4:c.613_614delinsGC NP_006114.1:p.Ala205=
NR_104128.1:n.830_831delinsGC
NM_000202.7:c.613_614delinsGC NP_000193.1:p.Ala205=
NM_001166550.3:c.343_344delinsGC NP_001160022.1:p.Ala115=
NM_000202.8:c.613_614delinsGC MANE Select NP_000193.1:p.Ala205=
NM_001166550.4:c.343_344delinsGC NP_001160022.1:p.Ala115=
NM_006123.5:c.613_614delinsGC NP_006114.1:p.Ala205=
NR_104128.2:n.782_783delinsGC