Canonical Allele Identifier: CA2695236541

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149487080dup , CM000685.2:g.149487080dup	GRCh38
NC_000023.10:g.148568611dup , CM000685.1:g.148568611dup	GRCh37
NC_000023.9:g.148376516dup	NCBI36
NG_011900.3:g.23255dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1025dup MANE Select	ENSP00000339801.6:p.His342GlnfsTer11
ENST00000651111.1:c.392dup	ENSP00000498395.1:p.His131GlnfsTer11
ENST00000340855.10:c.1025dup	ENSP00000339801.6:p.His342GlnfsTer11
ENST00000422081.6:c.392dup	ENSP00000477056.1:p.His131GlnfsTer11
ENST00000441880.1:n.132dup
NM_000202.6:c.1025dup	NP_000193.1:p.His342GlnfsTer11
NM_001166550.2:c.755dup	NP_001160022.1:p.His252GlnfsTer11
NM_000202.7:c.1025dup	NP_000193.1:p.His342GlnfsTer11
NM_001166550.3:c.755dup	NP_001160022.1:p.His252GlnfsTer11
NM_000202.8:c.1025dup MANE Select	NP_000193.1:p.His342GlnfsTer11
NM_001166550.4:c.755dup	NP_001160022.1:p.His252GlnfsTer11