Canonical Allele Identifier: CA2465005549

Gene: IDS

Linked Data

• ClinVar Variation Id: 988692
• ClinVar RCV Id: RCV001291016
• dbSNP Id: rs2089341188

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149486954_149486955insTGCGACCCTTT , CM000685.2:g.149486954_149486955insTGCGACCCTTT	GRCh38
NC_000023.10:g.148568485_148568486insTGCGACCCTTT , CM000685.1:g.148568485_148568486insTGCGACCCTTT	GRCh37
NC_000023.9:g.148376390_148376391insTGCGACCCTTT	NCBI36
NG_011900.3:g.23380_23381insAAAGGGTCGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1150_1151insAAAGGGTCGCA MANE Select	ENSP00000339801.6:p.Phe384Ter
ENST00000651111.1:c.517_518insAAAGGGTCGCA	ENSP00000498395.1:p.Phe173Ter
ENST00000340855.10:c.1150_1151insAAAGGGTCGCA	ENSP00000339801.6:p.Phe384Ter
ENST00000422081.6:c.517_518insAAAGGGTCGCA	ENSP00000477056.1:p.Phe173Ter
ENST00000441880.1:n.257_258insAAAGGGTCGCA
NM_000202.6:c.1150_1151insAAAGGGTCGCA	NP_000193.1:p.Phe384Ter
NM_001166550.2:c.880_881insAAAGGGTCGCA	NP_001160022.1:p.Phe294Ter
NM_000202.7:c.1150_1151insAAAGGGTCGCA	NP_000193.1:p.Phe384Ter
NM_001166550.3:c.880_881insAAAGGGTCGCA	NP_001160022.1:p.Phe294Ter
NM_000202.8:c.1150_1151insAAAGGGTCGCA MANE Select	NP_000193.1:p.Phe384Ter
NM_001166550.4:c.880_881insAAAGGGTCGCA	NP_001160022.1:p.Phe294Ter