Canonical Allele Identifier: CA10537445

Gene: IDS

Linked Data

• ExAC: X:148564486 A / ATGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGG
• MyVariant Identifiers: chrX:g.148564486_148564487insTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482955_149482956insTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGG , CM000685.2:g.149482955_149482956insTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGG	GRCh38
NC_000023.10:g.148564486_148564487insTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGG , CM000685.1:g.148564486_148564487insTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGG	GRCh37
NC_000023.9:g.148372391_148372392insTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGG	NCBI36
NG_011900.3:g.27379_27380insCCACAGTTCTTTACCTTTACTTGGCTTAGAGAAACTGTATCTTTGTTGCTTCATATAACCTTTCCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1443_1444insCCACAGTTCTTTACCTTTACTTGGCTTAGAGAAACTGTATCTTTGTTGCTTCATATAACCTTTCCCCA MANE Select	ENSP00000339801.6:p.Leu482ProfsTer24
ENST00000651111.1:c.810_811insCCACAGTTCTTTACCTTTACTTGGCTTAGAGAAACTGTATCTTTGTTGCTTCATATAACCTTTCCCCA	ENSP00000498395.1:p.Leu271ProfsTer24
ENST00000340855.10:c.1443_1444insCCACAGTTCTTTACCTTTACTTGGCTTAGAGAAACTGTATCTTTGTTGCTTCATATAACCTTTCCCCA	ENSP00000339801.6:p.Leu482ProfsTer24
ENST00000422081.6:c.810_811insCCACAGTTCTTTACCTTTACTTGGCTTAGAGAAACTGTATCTTTGTTGCTTCATATAACCTTTCCCCA	ENSP00000477056.1:p.Leu271ProfsTer24
NM_000202.6:c.1443_1444insCCACAGTTCTTTACCTTTACTTGGCTTAGAGAAACTGTATCTTTGTTGCTTCATATAACCTTTCCCCA	NP_000193.1:p.Leu482ProfsTer24
NM_001166550.2:c.1173_1174insCCACAGTTCTTTACCTTTACTTGGCTTAGAGAAACTGTATCTTTGTTGCTTCATATAACCTTTCCCCA	NP_001160022.1:p.Leu392ProfsTer24
NM_000202.7:c.1443_1444insCCACAGTTCTTTACCTTTACTTGGCTTAGAGAAACTGTATCTTTGTTGCTTCATATAACCTTTCCCCA	NP_000193.1:p.Leu482ProfsTer24
NM_001166550.3:c.1173_1174insCCACAGTTCTTTACCTTTACTTGGCTTAGAGAAACTGTATCTTTGTTGCTTCATATAACCTTTCCCCA	NP_001160022.1:p.Leu392ProfsTer24
NM_000202.8:c.1443_1444insCCACAGTTCTTTACCTTTACTTGGCTTAGAGAAACTGTATCTTTGTTGCTTCATATAACCTTTCCCCA MANE Select	NP_000193.1:p.Leu482ProfsTer24
NM_001166550.4:c.1173_1174insCCACAGTTCTTTACCTTTACTTGGCTTAGAGAAACTGTATCTTTGTTGCTTCATATAACCTTTCCCCA	NP_001160022.1:p.Leu392ProfsTer24