Canonical Allele Identifier: CA2499226398

Gene: IDS

Linked Data

• ClinVar Variation Id: 1065348
• ClinVar RCV Id: RCV001375873
• dbSNP Id: rs2124063133

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503374del , CM000685.2:g.149503374del	GRCh38
NC_000023.10:g.148584904del , CM000685.1:g.148584904del	GRCh37
NC_000023.9:g.148392809del	NCBI36
NG_011900.3:g.6961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.356del MANE Select	ENSP00000339801.6:p.Ile119ThrfsTer11
ENST00000651111.1:c.-215-2337del	ENSP00000498395.1:n.-215-2337del
ENST00000340855.10:c.356del	ENSP00000339801.6:p.Ile119ThrfsTer11
ENST00000370441.8:c.356del	ENSP00000359470.4:p.Ile119ThrfsTer11
ENST00000422081.6:c.-215-2337del	ENSP00000477056.1:n.-215-2337del
ENST00000427113.2:n.770-1151del
ENST00000428056.6:c.356del	ENSP00000390241.2:p.Ile119ThrfsTer11
ENST00000441880.1:n.114-16276del
ENST00000464251.5:c.179del	ENSP00000428980.1:p.Ile60ThrfsTer11
ENST00000466323.5:c.356del	ENSP00000418264.1:p.Ile119ThrfsTer11
ENST00000490775.5:n.15del
ENST00000523759.5:n.533-2337del
NM_000202.6:c.356del	NP_000193.1:p.Ile119ThrfsTer11
NM_001166550.2:c.86del	NP_001160022.1:p.Ile29ThrfsTer11
NM_006123.4:c.356del	NP_006114.1:p.Ile119ThrfsTer11
NR_104128.1:n.573del
NM_000202.7:c.356del	NP_000193.1:p.Ile119ThrfsTer11
NM_001166550.3:c.86del	NP_001160022.1:p.Ile29ThrfsTer11
NM_000202.8:c.356del MANE Select	NP_000193.1:p.Ile119ThrfsTer11
NM_001166550.4:c.86del	NP_001160022.1:p.Ile29ThrfsTer11
NM_006123.5:c.356del	NP_006114.1:p.Ile119ThrfsTer11
NR_104128.2:n.525del