Canonical Allele Identifier: CA2580101648

Gene: IDS

Linked Data

• ClinVar Variation Id: 1726057
• ClinVar RCV Id: RCV002307028

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503438del , CM000685.2:g.149503438del	GRCh38
NC_000023.10:g.148584968del , CM000685.1:g.148584968del	GRCh37
NC_000023.9:g.148392873del	NCBI36
NG_011900.3:g.6897del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.292del MANE Select	ENSP00000339801.6:p.Asp98ThrfsTer?
ENST00000651111.1:c.-215-2401del	ENSP00000498395.1:n.-215-2401del
ENST00000340855.10:c.292del	ENSP00000339801.6:p.Asp98ThrfsTer?
ENST00000370441.8:c.292del	ENSP00000359470.4:p.Asp98ThrfsTer?
ENST00000422081.6:c.-215-2401del	ENSP00000477056.1:n.-215-2401del
ENST00000427113.2:n.770-1215del
ENST00000428056.6:c.292del	ENSP00000390241.2:p.Asp98ThrfsTer?
ENST00000441880.1:n.114-16340del
ENST00000464251.5:c.115del	ENSP00000428980.1:p.Asp39ThrfsTer?
ENST00000466323.5:c.292del	ENSP00000418264.1:p.Asp98ThrfsTer?
ENST00000523759.5:n.533-2401del
NM_000202.6:c.292del	NP_000193.1:p.Asp98ThrfsTer?
NM_001166550.2:c.22del	NP_001160022.1:p.Asp8ThrfsTer?
NM_006123.4:c.292del	NP_006114.1:p.Asp98ThrfsTer?
NR_104128.1:n.509del
NM_000202.7:c.292del	NP_000193.1:p.Asp98ThrfsTer?
NM_001166550.3:c.22del	NP_001160022.1:p.Asp8ThrfsTer?
NM_000202.8:c.292del MANE Select	NP_000193.1:p.Asp98ThrfsTer?
NM_001166550.4:c.22del	NP_001160022.1:p.Asp8ThrfsTer?
NM_006123.5:c.292del	NP_006114.1:p.Asp98ThrfsTer?
NR_104128.2:n.461del