Canonical Allele Identifier: CA2740090143

Gene: IDS

Linked Data

• ClinVar Variation Id: 2986721
• ClinVar RCV Id: RCV003846376

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503305_149503306del , CM000685.2:g.149503305_149503306del	GRCh38
NC_000023.10:g.148584835_148584836del , CM000685.1:g.148584835_148584836del	GRCh37
NC_000023.9:g.148392740_148392741del	NCBI36
NG_011900.3:g.7029_7030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.418+6_418+7del MANE Select	ENSP00000339801.6:n.418+6_418+7del
ENST00000651111.1:c.-215-2269_-215-2268del	ENSP00000498395.1:n.-215-2269_-215-2268del
ENST00000340855.10:c.418+6_418+7del	ENSP00000339801.6:n.418+6_418+7del
ENST00000370441.8:c.418+6_418+7del	ENSP00000359470.4:n.418+6_418+7del
ENST00000422081.6:c.-215-2269_-215-2268del	ENSP00000477056.1:n.-215-2269_-215-2268del
ENST00000427113.2:n.770-1083_770-1082del
ENST00000428056.6:c.424_425del	ENSP00000390241.2:p.Ala142SerfsTer14
ENST00000441880.1:n.114-16208_114-16207del
ENST00000464251.5:c.241+6_241+7del	ENSP00000428980.1:n.241+6_241+7del
ENST00000466323.5:c.418+6_418+7del	ENSP00000418264.1:n.418+6_418+7del
ENST00000490775.5:n.77+6_77+7del
ENST00000523759.5:n.533-2269_533-2268del
NM_000202.6:c.418+6_418+7del	NP_000193.1:n.418+6_418+7del
NM_001166550.2:c.148+6_148+7del	NP_001160022.1:n.148+6_148+7del
NM_006123.4:c.418+6_418+7del	NP_006114.1:n.418+6_418+7del
NR_104128.1:n.635+6_635+7del
NM_000202.7:c.418+6_418+7del	NP_000193.1:n.418+6_418+7del
NM_001166550.3:c.148+6_148+7del	NP_001160022.1:n.148+6_148+7del
NM_000202.8:c.418+6_418+7del MANE Select	NP_000193.1:n.418+6_418+7del
NM_001166550.4:c.148+6_148+7del	NP_001160022.1:n.148+6_148+7del
NM_006123.5:c.418+6_418+7del	NP_006114.1:n.418+6_418+7del
NR_104128.2:n.587+6_587+7del