Canonical Allele Identifier: CA2695236571

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490367_149490382del , CM000685.2:g.149490367_149490382del	GRCh38
NC_000023.10:g.148571898_148571913del , CM000685.1:g.148571898_148571913del	GRCh37
NC_000023.9:g.148379803_148379818del	NCBI36
NG_011900.3:g.19954_19969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.939_954del MANE Select	ENSP00000339801.6:p.Leu314ThrfsTer21
ENST00000651111.1:c.306_321del	ENSP00000498395.1:p.Leu103ThrfsTer21
ENST00000340855.10:c.939_954del	ENSP00000339801.6:p.Leu314ThrfsTer21
ENST00000370441.8:c.939_954del	ENSP00000359470.4:p.Leu314ThrfsTer21
ENST00000422081.6:c.306_321del	ENSP00000477056.1:p.Leu103ThrfsTer21
ENST00000441880.1:n.114-3283_114-3268del
ENST00000464251.5:c.865_880del	ENSP00000428980.1:n.865_880del
ENST00000466323.5:c.*130_*145del	ENSP00000418264.1:n.*130_*145del
ENST00000490775.5:n.724_739del
NM_000202.6:c.939_954del	NP_000193.1:p.Leu314ThrfsTer21
NM_001166550.2:c.669_684del	NP_001160022.1:p.Leu224ThrfsTer21
NM_006123.4:c.939_954del	NP_006114.1:p.Leu314ThrfsTer21
NR_104128.1:n.1286_1301del
NM_000202.7:c.939_954del	NP_000193.1:p.Leu314ThrfsTer21
NM_001166550.3:c.669_684del	NP_001160022.1:p.Leu224ThrfsTer21
NM_000202.8:c.939_954del MANE Select	NP_000193.1:p.Leu314ThrfsTer21
NM_001166550.4:c.669_684del	NP_001160022.1:p.Leu224ThrfsTer21
NM_006123.5:c.939_954del	NP_006114.1:p.Leu314ThrfsTer21
NR_104128.2:n.1238_1253del