Canonical Allele Identifier: CA2580101646

Gene: IDS

Linked Data

• ClinVar Variation Id: 1724695
• ClinVar RCV Id: RCV002309963

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503390del , CM000685.2:g.149503390del	GRCh38
NC_000023.10:g.148584920del , CM000685.1:g.148584920del	GRCh37
NC_000023.9:g.148392825del	NCBI36
NG_011900.3:g.6946del

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.341del MANE Select	ENSP00000339801.6:p.Gly114GlufsTer16
ENST00000651111.1:c.-215-2352del	ENSP00000498395.1:n.-215-2352del
ENST00000340855.10:c.341del	ENSP00000339801.6:p.Gly114GlufsTer16
ENST00000370441.8:c.341del	ENSP00000359470.4:p.Gly114GlufsTer16
ENST00000422081.6:c.-215-2352del	ENSP00000477056.1:n.-215-2352del
ENST00000427113.2:n.770-1166del
ENST00000428056.6:c.341del	ENSP00000390241.2:p.Gly114GlufsTer16
ENST00000441880.1:n.114-16291del
ENST00000464251.5:c.164del	ENSP00000428980.1:p.Gly55GlufsTer16
ENST00000466323.5:c.341del	ENSP00000418264.1:p.Gly114GlufsTer16
ENST00000523759.5:n.533-2352del
NM_000202.6:c.341del	NP_000193.1:p.Gly114GlufsTer16
NM_001166550.2:c.71del	NP_001160022.1:p.Gly24GlufsTer16
NM_006123.4:c.341del	NP_006114.1:p.Gly114GlufsTer16
NR_104128.1:n.558del
NM_000202.7:c.341del	NP_000193.1:p.Gly114GlufsTer16
NM_001166550.3:c.71del	NP_001160022.1:p.Gly24GlufsTer16
NM_000202.8:c.341del MANE Select	NP_000193.1:p.Gly114GlufsTer16
NM_001166550.4:c.71del	NP_001160022.1:p.Gly24GlufsTer16
NM_006123.5:c.341del	NP_006114.1:p.Gly114GlufsTer16
NR_104128.2:n.510del