Canonical Allele Identifier: CA2465006797

Gene: IDS

Linked Data

• ClinVar Variation Id: 988687
• ClinVar RCV Id: RCV001291011
• dbSNP Id: rs2089380268

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490420_149490421del , CM000685.2:g.149490420_149490421del	GRCh38
NC_000023.10:g.148571951_148571952del , CM000685.1:g.148571951_148571952del	GRCh37
NC_000023.9:g.148379856_148379857del	NCBI36
NG_011900.3:g.19914_19915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.899_900del MANE Select	ENSP00000339801.6:p.Tyr300PhefsTer?
ENST00000651111.1:c.266_267del	ENSP00000498395.1:p.Tyr89PhefsTer?
ENST00000340855.10:c.899_900del	ENSP00000339801.6:p.Tyr300PhefsTer?
ENST00000370441.8:c.899_900del	ENSP00000359470.4:p.Tyr300PhefsTer?
ENST00000422081.6:c.266_267del	ENSP00000477056.1:p.Tyr89PhefsTer?
ENST00000441880.1:n.114-3323_114-3322del
ENST00000464251.5:c.825_826del	ENSP00000428980.1:n.825_826del
ENST00000466323.5:c.*90_*91del	ENSP00000418264.1:n.*90_*91del
ENST00000490775.5:n.684_685del
NM_000202.6:c.899_900del	NP_000193.1:p.Tyr300PhefsTer?
NM_001166550.2:c.629_630del	NP_001160022.1:p.Tyr210PhefsTer?
NM_006123.4:c.899_900del	NP_006114.1:p.Tyr300PhefsTer?
NR_104128.1:n.1246_1247del
NM_000202.7:c.899_900del	NP_000193.1:p.Tyr300PhefsTer?
NM_001166550.3:c.629_630del	NP_001160022.1:p.Tyr210PhefsTer?
NM_000202.8:c.899_900del MANE Select	NP_000193.1:p.Tyr300PhefsTer?
NM_001166550.4:c.629_630del	NP_001160022.1:p.Tyr210PhefsTer?
NM_006123.5:c.899_900del	NP_006114.1:p.Tyr300PhefsTer?
NR_104128.2:n.1198_1199del