Canonical Allele Identifier: CA2579719170

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490402del , CM000685.2:g.149490402del	GRCh38
NC_000023.10:g.148571933del , CM000685.1:g.148571933del	GRCh37
NC_000023.9:g.148379838del	NCBI36
NG_011900.3:g.19935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.920del MANE Select	ENSP00000339801.6:p.Leu307TrpfsTer9
ENST00000651111.1:c.287del	ENSP00000498395.1:p.Leu96TrpfsTer9
ENST00000340855.10:c.920del	ENSP00000339801.6:p.Leu307TrpfsTer9
ENST00000370441.8:c.920del	ENSP00000359470.4:p.Leu307TrpfsTer9
ENST00000422081.6:c.287del	ENSP00000477056.1:p.Leu96TrpfsTer9
ENST00000441880.1:n.114-3302del
ENST00000464251.5:c.846del	ENSP00000428980.1:n.846del
ENST00000466323.5:c.*111del	ENSP00000418264.1:n.*111del
ENST00000490775.5:n.705del
NM_000202.6:c.920del	NP_000193.1:p.Leu307TrpfsTer9
NM_001166550.2:c.650del	NP_001160022.1:p.Leu217TrpfsTer9
NM_006123.4:c.920del	NP_006114.1:p.Leu307TrpfsTer9
NR_104128.1:n.1267del
NM_000202.7:c.920del	NP_000193.1:p.Leu307TrpfsTer9
NM_001166550.3:c.650del	NP_001160022.1:p.Leu217TrpfsTer9
NM_000202.8:c.920del MANE Select	NP_000193.1:p.Leu307TrpfsTer9
NM_001166550.4:c.650del	NP_001160022.1:p.Leu217TrpfsTer9
NM_006123.5:c.920del	NP_006114.1:p.Leu307TrpfsTer9
NR_104128.2:n.1219del