Canonical Allele Identifier: CA2695236663

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498299_149498301delinsATGTCTTTCATCC , CM000685.2:g.149498299_149498301delinsATGTCTTTCATCC	GRCh38
NC_000023.10:g.148579830_148579832delinsATGTCTTTCATCC , CM000685.1:g.148579830_148579832delinsATGTCTTTCATCC	GRCh37
NC_000023.9:g.148387735_148387737delinsATGTCTTTCATCC	NCBI36
NG_011900.3:g.12034_12036delinsGGATGAAAGACAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.514_516delinsGGATGAAAGACAT MANE Select	ENSP00000339801.6:p.Arg172GlyfsTer2
ENST00000651111.1:c.-120_-118delinsGGATGAAAGACAT	ENSP00000498395.1:n.-120_-118delinsGGATGA...
ENST00000340855.10:c.514_516delinsGGATGAAAGACAT	ENSP00000339801.6:p.Arg172GlyfsTer2
ENST00000370441.8:c.514_516delinsGGATGAAAGACAT	ENSP00000359470.4:p.Arg172GlyfsTer2
ENST00000422081.6:c.-120_-118delinsGGATGAAAGACAT	ENSP00000477056.1:n.-120_-118delinsGGATGA...
ENST00000441880.1:n.114-11203_114-11201delinsGGATGAAAGACAT
ENST00000464251.5:c.440_442delinsGGATGAAAGACAT	ENSP00000428980.1:n.440_442delinsGGATGAAA...
ENST00000466323.5:c.514_516delinsGGATGAAAGACAT	ENSP00000418264.1:p.Arg172GlyfsTer2
ENST00000490775.5:n.299_301delinsGGATGAAAGACAT
ENST00000523759.5:n.628_630delinsGGATGAAAGACAT
NM_000202.6:c.514_516delinsGGATGAAAGACAT	NP_000193.1:p.Arg172GlyfsTer2
NM_001166550.2:c.244_246delinsGGATGAAAGACAT	NP_001160022.1:p.Arg82GlyfsTer2
NM_006123.4:c.514_516delinsGGATGAAAGACAT	NP_006114.1:p.Arg172GlyfsTer2
NR_104128.1:n.731_733delinsGGATGAAAGACAT
NM_000202.7:c.514_516delinsGGATGAAAGACAT	NP_000193.1:p.Arg172GlyfsTer2
NM_001166550.3:c.244_246delinsGGATGAAAGACAT	NP_001160022.1:p.Arg82GlyfsTer2
NM_000202.8:c.514_516delinsGGATGAAAGACAT MANE Select	NP_000193.1:p.Arg172GlyfsTer2
NM_001166550.4:c.244_246delinsGGATGAAAGACAT	NP_001160022.1:p.Arg82GlyfsTer2
NM_006123.5:c.514_516delinsGGATGAAAGACAT	NP_006114.1:p.Arg172GlyfsTer2
NR_104128.2:n.683_685delinsGGATGAAAGACAT