Canonical Allele Identifier: CA2695236638

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498163dup , CM000685.2:g.149498163dup	GRCh38
NC_000023.10:g.148579694dup , CM000685.1:g.148579694dup	GRCh37
NC_000023.9:g.148387599dup	NCBI36
NG_011900.3:g.12173dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.653dup MANE Select	ENSP00000339801.6:p.Phe220LeufsTer8
ENST00000651111.1:c.20dup	ENSP00000498395.1:p.Phe9LeufsTer8
ENST00000340855.10:c.653dup	ENSP00000339801.6:p.Phe220LeufsTer8
ENST00000370441.8:c.653dup	ENSP00000359470.4:p.Phe220LeufsTer8
ENST00000422081.6:c.20dup	ENSP00000477056.1:p.Phe9LeufsTer8
ENST00000441880.1:n.114-11064dup
ENST00000464251.5:c.579dup	ENSP00000428980.1:n.579dup
ENST00000466019.1:n.105dup
ENST00000466323.5:c.653dup	ENSP00000418264.1:p.Phe220LeufsTer8
ENST00000490775.5:n.438dup
NM_000202.6:c.653dup	NP_000193.1:p.Phe220LeufsTer8
NM_001166550.2:c.383dup	NP_001160022.1:p.Phe130LeufsTer8
NM_006123.4:c.653dup	NP_006114.1:p.Phe220LeufsTer8
NR_104128.1:n.870dup
NM_000202.7:c.653dup	NP_000193.1:p.Phe220LeufsTer8
NM_001166550.3:c.383dup	NP_001160022.1:p.Phe130LeufsTer8
NM_000202.8:c.653dup MANE Select	NP_000193.1:p.Phe220LeufsTer8
NM_001166550.4:c.383dup	NP_001160022.1:p.Phe130LeufsTer8
NM_006123.5:c.653dup	NP_006114.1:p.Phe220LeufsTer8
NR_104128.2:n.822dup