Canonical Allele Identifier: CA2695236516

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483088del , CM000685.2:g.149483088del	GRCh38
NC_000023.10:g.148564619del , CM000685.1:g.148564619del	GRCh37
NC_000023.9:g.148372524del	NCBI36
NG_011900.3:g.27248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1312del MANE Select	ENSP00000339801.6:p.Leu438PhefsTer2
ENST00000651111.1:c.679del	ENSP00000498395.1:p.Leu227PhefsTer2
ENST00000340855.10:c.1312del	ENSP00000339801.6:p.Leu438PhefsTer2
ENST00000422081.6:c.679del	ENSP00000477056.1:p.Leu227PhefsTer2
NM_000202.6:c.1312del	NP_000193.1:p.Leu438PhefsTer2
NM_001166550.2:c.1042del	NP_001160022.1:p.Leu348PhefsTer2
NM_000202.7:c.1312del	NP_000193.1:p.Leu438PhefsTer2
NM_001166550.3:c.1042del	NP_001160022.1:p.Leu348PhefsTer2
NM_000202.8:c.1312del MANE Select	NP_000193.1:p.Leu438PhefsTer2
NM_001166550.4:c.1042del	NP_001160022.1:p.Leu348PhefsTer2