Canonical Allele Identifier: CA2695236547

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149487085_149487086dup , CM000685.2:g.149487085_149487086dup	GRCh38
NC_000023.10:g.148568616_148568617dup , CM000685.1:g.148568616_148568617dup	GRCh37
NC_000023.9:g.148376521_148376522dup	NCBI36
NG_011900.3:g.23250_23251dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1020_1021dup MANE Select	ENSP00000339801.6:p.Glu341ValfsTer20
ENST00000651111.1:c.387_388dup	ENSP00000498395.1:p.Glu130ValfsTer20
ENST00000340855.10:c.1020_1021dup	ENSP00000339801.6:p.Glu341ValfsTer20
ENST00000422081.6:c.387_388dup	ENSP00000477056.1:p.Glu130ValfsTer20
ENST00000441880.1:n.127_128dup
NM_000202.6:c.1020_1021dup	NP_000193.1:p.Glu341ValfsTer20
NM_001166550.2:c.750_751dup	NP_001160022.1:p.Glu251ValfsTer20
NM_000202.7:c.1020_1021dup	NP_000193.1:p.Glu341ValfsTer20
NM_001166550.3:c.750_751dup	NP_001160022.1:p.Glu251ValfsTer20
NM_000202.8:c.1020_1021dup MANE Select	NP_000193.1:p.Glu341ValfsTer20
NM_001166550.4:c.750_751dup	NP_001160022.1:p.Glu251ValfsTer20