Canonical Allele Identifier: CA2465010878

Gene: IDS

Linked Data

• ClinVar Variation Id: 988673
• ClinVar RCV Id: RCV001290997
• dbSNP Id: rs2089496744

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503425del , CM000685.2:g.149503425del	GRCh38
NC_000023.10:g.148584955del , CM000685.1:g.148584955del	GRCh37
NC_000023.9:g.148392860del	NCBI36
NG_011900.3:g.6910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.305del MANE Select	ENSP00000339801.6:p.Leu102ArgfsTer28
ENST00000651111.1:c.-215-2388del	ENSP00000498395.1:n.-215-2388del
ENST00000340855.10:c.305del	ENSP00000339801.6:p.Leu102ArgfsTer28
ENST00000370441.8:c.305del	ENSP00000359470.4:p.Leu102ArgfsTer28
ENST00000422081.6:c.-215-2388del	ENSP00000477056.1:n.-215-2388del
ENST00000427113.2:n.770-1202del
ENST00000428056.6:c.305del	ENSP00000390241.2:p.Leu102ArgfsTer28
ENST00000441880.1:n.114-16327del
ENST00000464251.5:c.128del	ENSP00000428980.1:p.Leu43ArgfsTer28
ENST00000466323.5:c.305del	ENSP00000418264.1:p.Leu102ArgfsTer28
ENST00000523759.5:n.533-2388del
NM_000202.6:c.305del	NP_000193.1:p.Leu102ArgfsTer28
NM_001166550.2:c.35del	NP_001160022.1:p.Leu12ArgfsTer28
NM_006123.4:c.305del	NP_006114.1:p.Leu102ArgfsTer28
NR_104128.1:n.522del
NM_000202.7:c.305del	NP_000193.1:p.Leu102ArgfsTer28
NM_001166550.3:c.35del	NP_001160022.1:p.Leu12ArgfsTer28
NM_000202.8:c.305del MANE Select	NP_000193.1:p.Leu102ArgfsTer28
NM_001166550.4:c.35del	NP_001160022.1:p.Leu12ArgfsTer28
NM_006123.5:c.305del	NP_006114.1:p.Leu102ArgfsTer28
NR_104128.2:n.474del