Canonical Allele Identifier: CA915952046

Gene: IDS

Linked Data

• ClinVar Variation Id: 654393
• ClinVar RCV Id: RCV000810354
• dbSNP Id: rs1602734459

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490336del , CM000685.2:g.149490336del	GRCh38
NC_000023.10:g.148571867del , CM000685.1:g.148571867del	GRCh37
NC_000023.9:g.148379772del	NCBI36
NG_011900.3:g.19999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.984del MANE Select	ENSP00000339801.6:p.Ile329LeufsTer11
ENST00000651111.1:c.351del	ENSP00000498395.1:p.Ile118LeufsTer11
ENST00000340855.10:c.984del	ENSP00000339801.6:p.Ile329LeufsTer11
ENST00000370441.8:c.984del	ENSP00000359470.4:p.Ile329LeufsTer11
ENST00000422081.6:c.351del	ENSP00000477056.1:p.Ile118LeufsTer11
ENST00000441880.1:n.114-3238del
ENST00000464251.5:c.910del	ENSP00000428980.1:n.910del
ENST00000466323.5:c.*175del	ENSP00000418264.1:n.*175del
ENST00000490775.5:n.769del
NM_000202.6:c.984del	NP_000193.1:p.Ile329LeufsTer11
NM_001166550.2:c.714del	NP_001160022.1:p.Ile239LeufsTer11
NM_006123.4:c.984del	NP_006114.1:p.Ile329LeufsTer11
NR_104128.1:n.1331del
NM_000202.7:c.984del	NP_000193.1:p.Ile329LeufsTer11
NM_001166550.3:c.714del	NP_001160022.1:p.Ile239LeufsTer11
NM_000202.8:c.984del MANE Select	NP_000193.1:p.Ile329LeufsTer11
NM_001166550.4:c.714del	NP_001160022.1:p.Ile239LeufsTer11
NM_006123.5:c.984del	NP_006114.1:p.Ile329LeufsTer11
NR_104128.2:n.1283del