Canonical Allele Identifier: CA2695236642
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498178del , CM000685.2:g.149498178del GRCh38
NC_000023.10:g.148579709del , CM000685.1:g.148579709del GRCh37
NC_000023.9:g.148387614del NCBI36
NG_011900.3:g.12160del

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.640del MANE Select ENSP00000339801.6:p.Thr214ArgfsTer?
ENST00000651111.1:c.7del ENSP00000498395.1:p.Thr3ArgfsTer?
ENST00000340855.10:c.640del ENSP00000339801.6:p.Thr214ArgfsTer?
ENST00000370441.8:c.640del ENSP00000359470.4:p.Thr214ArgfsTer?
ENST00000422081.6:c.7del ENSP00000477056.1:p.Thr3ArgfsTer?
ENST00000441880.1:n.114-11077del
ENST00000464251.5:c.566del ENSP00000428980.1:n.566del
ENST00000466019.1:n.92del
ENST00000466323.5:c.640del ENSP00000418264.1:p.Thr214ArgfsTer?
ENST00000490775.5:n.425del
NM_000202.6:c.640del NP_000193.1:p.Thr214ArgfsTer?
NM_001166550.2:c.370del NP_001160022.1:p.Thr124ArgfsTer?
NM_006123.4:c.640del NP_006114.1:p.Thr214ArgfsTer?
NR_104128.1:n.857del
NM_000202.7:c.640del NP_000193.1:p.Thr214ArgfsTer?
NM_001166550.3:c.370del NP_001160022.1:p.Thr124ArgfsTer?
NM_000202.8:c.640del MANE Select NP_000193.1:p.Thr214ArgfsTer?
NM_001166550.4:c.370del NP_001160022.1:p.Thr124ArgfsTer?
NM_006123.5:c.640del NP_006114.1:p.Thr214ArgfsTer?
NR_104128.2:n.809del