Canonical Allele Identifier: CA2838031998
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498220_149498233delinsC , CM000685.2:g.149498220_149498233delinsC GRCh38
NC_000023.10:g.148579751_148579764delinsC , CM000685.1:g.148579751_148579764delinsC GRCh37
NC_000023.9:g.148387656_148387669delinsC NCBI36
NG_011900.3:g.12102_12115delinsG

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.582_595delinsG MANE Select ENSP00000339801.6:p.Thr195AsnfsTer14
ENST00000651111.1:c.-52_-39delinsG ENSP00000498395.1:n.-52_-39delinsG
ENST00000340855.10:c.582_595delinsG ENSP00000339801.6:p.Thr195AsnfsTer14
ENST00000370441.8:c.582_595delinsG ENSP00000359470.4:p.Thr195AsnfsTer14
ENST00000422081.6:c.-52_-39delinsG ENSP00000477056.1:n.-52_-39delinsG
ENST00000441880.1:n.114-11135_114-11122delinsG
ENST00000464251.5:c.508_521delinsG ENSP00000428980.1:n.508_521delinsG
ENST00000466019.1:n.34_47delinsG
ENST00000466323.5:c.582_595delinsG ENSP00000418264.1:p.Thr195AsnfsTer14
ENST00000490775.5:n.367_380delinsG
ENST00000523759.5:n.696_709delinsG
NM_000202.6:c.582_595delinsG NP_000193.1:p.Thr195AsnfsTer14
NM_001166550.2:c.312_325delinsG NP_001160022.1:p.Thr105AsnfsTer14
NM_006123.4:c.582_595delinsG NP_006114.1:p.Thr195AsnfsTer14
NR_104128.1:n.799_812delinsG
NM_000202.7:c.582_595delinsG NP_000193.1:p.Thr195AsnfsTer14
NM_001166550.3:c.312_325delinsG NP_001160022.1:p.Thr105AsnfsTer14
NM_000202.8:c.582_595delinsG MANE Select NP_000193.1:p.Thr195AsnfsTer14
NM_001166550.4:c.312_325delinsG NP_001160022.1:p.Thr105AsnfsTer14
NM_006123.5:c.582_595delinsG NP_006114.1:p.Thr195AsnfsTer14
NR_104128.2:n.751_764delinsG