Canonical Allele Identifier: CA2695236587

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149496348_149496349del , CM000685.2:g.149496348_149496349del	GRCh38
NC_000023.10:g.148577879_148577880del , CM000685.1:g.148577879_148577880del	GRCh37
NC_000023.9:g.148385784_148385785del	NCBI36
NG_011900.3:g.13986_13987del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.876_877del MANE Select	ENSP00000339801.6:p.Phe292LeufsTer?
ENST00000651111.1:c.243_244del	ENSP00000498395.1:p.Phe81LeufsTer?
ENST00000340855.10:c.876_877del	ENSP00000339801.6:p.Phe292LeufsTer?
ENST00000370441.8:c.876_877del	ENSP00000359470.4:p.Phe292LeufsTer?
ENST00000422081.6:c.243_244del	ENSP00000477056.1:p.Phe81LeufsTer?
ENST00000441880.1:n.114-9251_114-9250del
ENST00000464251.5:c.802_803del	ENSP00000428980.1:n.802_803del
ENST00000466019.1:n.328_329del
ENST00000466323.5:c.876_877del	ENSP00000418264.1:p.Phe292LeufsTer20
ENST00000490775.5:n.661_662del
NM_000202.6:c.876_877del	NP_000193.1:p.Phe292LeufsTer?
NM_001166550.2:c.606_607del	NP_001160022.1:p.Phe202LeufsTer?
NM_006123.4:c.876_877del	NP_006114.1:p.Phe292LeufsTer?
NR_104128.1:n.1093_1094del
NM_000202.7:c.876_877del	NP_000193.1:p.Phe292LeufsTer?
NM_001166550.3:c.606_607del	NP_001160022.1:p.Phe202LeufsTer?
NM_000202.8:c.876_877del MANE Select	NP_000193.1:p.Phe292LeufsTer?
NM_001166550.4:c.606_607del	NP_001160022.1:p.Phe202LeufsTer?
NM_006123.5:c.876_877del	NP_006114.1:p.Phe292LeufsTer?
NR_104128.2:n.1045_1046del