Canonical Allele Identifier: CA2465008691

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149496423_149496425delinsTCC , CM000685.2:g.149496423_149496425delinsTCC	GRCh38
NC_000023.10:g.148577954_148577956delinsTCC , CM000685.1:g.148577954_148577956delinsTCC	GRCh37
NC_000023.9:g.148385859_148385861delinsTCC	NCBI36
NG_011900.3:g.13910_13912delinsGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.800_802delinsGGA MANE Select	ENSP00000339801.6:p.Trp267=
ENST00000651111.1:c.167_169delinsGGA	ENSP00000498395.1:p.Trp56=
ENST00000340855.10:c.800_802delinsGGA	ENSP00000339801.6:p.Trp267=
ENST00000370441.8:c.800_802delinsGGA	ENSP00000359470.4:p.Trp267=
ENST00000422081.6:c.167_169delinsGGA	ENSP00000477056.1:p.Trp56=
ENST00000441880.1:n.114-9327_114-9325delinsGGA
ENST00000464251.5:c.726_728delinsGGA	ENSP00000428980.1:n.726_728delinsGGA
ENST00000466019.1:n.252_254delinsGGA
ENST00000466323.5:c.800_802delinsGGA	ENSP00000418264.1:p.Trp267=
ENST00000490775.5:n.585_587delinsGGA
NM_000202.6:c.800_802delinsGGA	NP_000193.1:p.Trp267=
NM_001166550.2:c.530_532delinsGGA	NP_001160022.1:p.Trp177=
NM_006123.4:c.800_802delinsGGA	NP_006114.1:p.Trp267=
NR_104128.1:n.1017_1019delinsGGA
NM_000202.7:c.800_802delinsGGA	NP_000193.1:p.Trp267=
NM_001166550.3:c.530_532delinsGGA	NP_001160022.1:p.Trp177=
NM_000202.8:c.800_802delinsGGA MANE Select	NP_000193.1:p.Trp267=
NM_001166550.4:c.530_532delinsGGA	NP_001160022.1:p.Trp177=
NM_006123.5:c.800_802delinsGGA	NP_006114.1:p.Trp267=
NR_104128.2:n.969_971delinsGGA