Canonical Allele Identifier: CA2573159287

Gene: IDS

Linked Data

• ClinVar Variation Id: 1432854
• ClinVar RCV Id: RCV001959968
• dbSNP Id: rs2124648304

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482841dup , CM000685.2:g.149482841dup	GRCh38
NC_000023.10:g.148564372dup , CM000685.1:g.148564372dup	GRCh37
NC_000023.9:g.148372277dup	NCBI36
NG_011900.3:g.27497dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1561dup MANE Select	ENSP00000339801.6:p.Glu521GlyfsTer8
ENST00000651111.1:c.928dup	ENSP00000498395.1:p.Glu310GlyfsTer8
ENST00000340855.10:c.1561dup	ENSP00000339801.6:p.Glu521GlyfsTer8
ENST00000422081.6:c.928dup	ENSP00000477056.1:p.Glu310GlyfsTer8
NM_000202.6:c.1561dup	NP_000193.1:p.Glu521GlyfsTer8
NM_001166550.2:c.1291dup	NP_001160022.1:p.Glu431GlyfsTer8
NM_000202.7:c.1561dup	NP_000193.1:p.Glu521GlyfsTer8
NM_001166550.3:c.1291dup	NP_001160022.1:p.Glu431GlyfsTer8
NM_000202.8:c.1561dup MANE Select	NP_000193.1:p.Glu521GlyfsTer8
NM_001166550.4:c.1291dup	NP_001160022.1:p.Glu431GlyfsTer8