Canonical Allele Identifier: CA2695236535

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149487071del , CM000685.2:g.149487071del	GRCh38
NC_000023.10:g.148568602del , CM000685.1:g.148568602del	GRCh37
NC_000023.9:g.148376507del	NCBI36
NG_011900.3:g.23266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1036del MANE Select	ENSP00000339801.6:p.Ala346ProfsTer14
ENST00000651111.1:c.403del	ENSP00000498395.1:p.Ala135ProfsTer14
ENST00000340855.10:c.1036del	ENSP00000339801.6:p.Ala346ProfsTer14
ENST00000422081.6:c.403del	ENSP00000477056.1:p.Ala135ProfsTer14
ENST00000441880.1:n.143del
NM_000202.6:c.1036del	NP_000193.1:p.Ala346ProfsTer14
NM_001166550.2:c.766del	NP_001160022.1:p.Ala256ProfsTer14
NM_000202.7:c.1036del	NP_000193.1:p.Ala346ProfsTer14
NM_001166550.3:c.766del	NP_001160022.1:p.Ala256ProfsTer14
NM_000202.8:c.1036del MANE Select	NP_000193.1:p.Ala346ProfsTer14
NM_001166550.4:c.766del	NP_001160022.1:p.Ala256ProfsTer14