Canonical Allele Identifier: CA2465003993

Gene: IDS

Linked Data

• ClinVar Variation Id: 988702
• ClinVar RCV Id: RCV001291026
• dbSNP Id: rs2089305217

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482963_149482974del , CM000685.2:g.149482963_149482974del	GRCh38
NC_000023.10:g.148564494_148564505del , CM000685.1:g.148564494_148564505del	GRCh37
NC_000023.9:g.148372399_148372410del	NCBI36
NG_011900.3:g.27362_27373del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1426_1437del MANE Select	ENSP00000339801.6:p.Asn476_Lys479del
ENST00000651111.1:c.793_804del	ENSP00000498395.1:p.Asn265_Lys268del
ENST00000340855.10:c.1426_1437del	ENSP00000339801.6:p.Asn476_Lys479del
ENST00000422081.6:c.793_804del	ENSP00000477056.1:p.Asn265_Lys268del
NM_000202.6:c.1426_1437del	NP_000193.1:p.Asn476_Lys479del
NM_001166550.2:c.1156_1167del	NP_001160022.1:p.Asn386_Lys389del
NM_000202.7:c.1426_1437del	NP_000193.1:p.Asn476_Lys479del
NM_001166550.3:c.1156_1167del	NP_001160022.1:p.Asn386_Lys389del
NM_000202.8:c.1426_1437del MANE Select	NP_000193.1:p.Asn476_Lys479del
NM_001166550.4:c.1156_1167del	NP_001160022.1:p.Asn386_Lys389del