Canonical Allele Identifier: CA2695236601
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149496417_149496420dup , CM000685.2:g.149496417_149496420dup GRCh38
NC_000023.10:g.148577948_148577951dup , CM000685.1:g.148577948_148577951dup GRCh37
NC_000023.9:g.148385853_148385856dup NCBI36
NG_011900.3:g.13915_13918dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.805_808dup MANE Select ENSP00000339801.6:p.Ile270ArgfsTer?
ENST00000651111.1:c.172_175dup ENSP00000498395.1:p.Ile59ArgfsTer?
ENST00000340855.10:c.805_808dup ENSP00000339801.6:p.Ile270ArgfsTer?
ENST00000370441.8:c.805_808dup ENSP00000359470.4:p.Ile270ArgfsTer?
ENST00000422081.6:c.172_175dup ENSP00000477056.1:p.Ile59ArgfsTer?
ENST00000441880.1:n.114-9322_114-9319dup
ENST00000464251.5:c.731_734dup ENSP00000428980.1:n.731_734dup
ENST00000466019.1:n.257_260dup
ENST00000466323.5:c.805_808dup ENSP00000418264.1:p.Ile270ArgfsTer?
ENST00000490775.5:n.590_593dup
NM_000202.6:c.805_808dup NP_000193.1:p.Ile270ArgfsTer?
NM_001166550.2:c.535_538dup NP_001160022.1:p.Ile180ArgfsTer?
NM_006123.4:c.805_808dup NP_006114.1:p.Ile270ArgfsTer?
NR_104128.1:n.1022_1025dup
NM_000202.7:c.805_808dup NP_000193.1:p.Ile270ArgfsTer?
NM_001166550.3:c.535_538dup NP_001160022.1:p.Ile180ArgfsTer?
NM_000202.8:c.805_808dup MANE Select NP_000193.1:p.Ile270ArgfsTer?
NM_001166550.4:c.535_538dup NP_001160022.1:p.Ile180ArgfsTer?
NM_006123.5:c.805_808dup NP_006114.1:p.Ile270ArgfsTer?
NR_104128.2:n.974_977dup