Canonical Allele Identifier: CA2695236476

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482812del , CM000685.2:g.149482812del	GRCh38
NC_000023.10:g.148564343del , CM000685.1:g.148564343del	GRCh37
NC_000023.9:g.148372248del	NCBI36
NG_011900.3:g.27523del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1587del MANE Select	ENSP00000339801.6:p.Leu530CysfsTer19
ENST00000651111.1:c.954del	ENSP00000498395.1:p.Leu319CysfsTer19
ENST00000340855.10:c.1587del	ENSP00000339801.6:p.Leu530CysfsTer19
ENST00000422081.6:c.954del	ENSP00000477056.1:p.Leu319CysfsTer19
NM_000202.6:c.1587del	NP_000193.1:p.Leu530CysfsTer19
NM_001166550.2:c.1317del	NP_001160022.1:p.Leu440CysfsTer19
NM_000202.7:c.1587del	NP_000193.1:p.Leu530CysfsTer19
NM_001166550.3:c.1317del	NP_001160022.1:p.Leu440CysfsTer19
NM_000202.8:c.1587del MANE Select	NP_000193.1:p.Leu530CysfsTer19
NM_001166550.4:c.1317del	NP_001160022.1:p.Leu440CysfsTer19