Canonical Allele Identifier: CA2695236566

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490325del , CM000685.2:g.149490325del	GRCh38
NC_000023.10:g.148571856del , CM000685.1:g.148571856del	GRCh37
NC_000023.9:g.148379761del	NCBI36
NG_011900.3:g.20011del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.996del MANE Select	ENSP00000339801.6:p.Ser333ArgfsTer7
ENST00000651111.1:c.363del	ENSP00000498395.1:p.Ser122ArgfsTer7
ENST00000340855.10:c.996del	ENSP00000339801.6:p.Ser333ArgfsTer7
ENST00000370441.8:c.996del	ENSP00000359470.4:p.Ser333ArgfsTer7
ENST00000422081.6:c.363del	ENSP00000477056.1:p.Ser122ArgfsTer7
ENST00000441880.1:n.114-3226del
ENST00000464251.5:c.922del	ENSP00000428980.1:n.922del
ENST00000466323.5:c.*187del	ENSP00000418264.1:n.*187del
ENST00000490775.5:n.781del
NM_000202.6:c.996del	NP_000193.1:p.Ser333ArgfsTer7
NM_001166550.2:c.726del	NP_001160022.1:p.Ser243ArgfsTer7
NM_006123.4:c.996del	NP_006114.1:p.Ser333ArgfsTer7
NR_104128.1:n.1343del
NM_000202.7:c.996del	NP_000193.1:p.Ser333ArgfsTer7
NM_001166550.3:c.726del	NP_001160022.1:p.Ser243ArgfsTer7
NM_000202.8:c.996del MANE Select	NP_000193.1:p.Ser333ArgfsTer7
NM_001166550.4:c.726del	NP_001160022.1:p.Ser243ArgfsTer7
NM_006123.5:c.996del	NP_006114.1:p.Ser333ArgfsTer7
NR_104128.2:n.1295del