Canonical Allele Identifier: CA2695236577
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490409del , CM000685.2:g.149490409del GRCh38
NC_000023.10:g.148571940del , CM000685.1:g.148571940del GRCh37
NC_000023.9:g.148379845del NCBI36
NG_011900.3:g.19926del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.911del MANE Select ENSP00000339801.6:p.Val304GlyfsTer12
ENST00000651111.1:c.278del ENSP00000498395.1:p.Val93GlyfsTer12
ENST00000340855.10:c.911del ENSP00000339801.6:p.Val304GlyfsTer12
ENST00000370441.8:c.911del ENSP00000359470.4:p.Val304GlyfsTer12
ENST00000422081.6:c.278del ENSP00000477056.1:p.Val93GlyfsTer12
ENST00000441880.1:n.114-3311del
ENST00000464251.5:c.837del ENSP00000428980.1:n.837del
ENST00000466323.5:c.*102del ENSP00000418264.1:n.*102del
ENST00000490775.5:n.696del
NM_000202.6:c.911del NP_000193.1:p.Val304GlyfsTer12
NM_001166550.2:c.641del NP_001160022.1:p.Val214GlyfsTer12
NM_006123.4:c.911del NP_006114.1:p.Val304GlyfsTer12
NR_104128.1:n.1258del
NM_000202.7:c.911del NP_000193.1:p.Val304GlyfsTer12
NM_001166550.3:c.641del NP_001160022.1:p.Val214GlyfsTer12
NM_000202.8:c.911del MANE Select NP_000193.1:p.Val304GlyfsTer12
NM_001166550.4:c.641del NP_001160022.1:p.Val214GlyfsTer12
NM_006123.5:c.911del NP_006114.1:p.Val304GlyfsTer12
NR_104128.2:n.1210del