Canonical Allele Identifier: CA2830563718

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482976del , CM000685.2:g.149482976del	GRCh38
NC_000023.10:g.148564507del , CM000685.1:g.148564507del	GRCh37
NC_000023.9:g.148372412del	NCBI36
NG_011900.3:g.27359del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1423del MANE Select	ENSP00000339801.6:p.Trp475GlyfsTer8
ENST00000651111.1:c.790del	ENSP00000498395.1:p.Trp264GlyfsTer8
ENST00000340855.10:c.1423del	ENSP00000339801.6:p.Trp475GlyfsTer8
ENST00000422081.6:c.790del	ENSP00000477056.1:p.Trp264GlyfsTer8
NM_000202.6:c.1423del	NP_000193.1:p.Trp475GlyfsTer8
NM_001166550.2:c.1153del	NP_001160022.1:p.Trp385GlyfsTer8
NM_000202.7:c.1423del	NP_000193.1:p.Trp475GlyfsTer8
NM_001166550.3:c.1153del	NP_001160022.1:p.Trp385GlyfsTer8
NM_000202.8:c.1423del MANE Select	NP_000193.1:p.Trp475GlyfsTer8
NM_001166550.4:c.1153del	NP_001160022.1:p.Trp385GlyfsTer8