Canonical Allele Identifier: CA2465006769

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490335_149490336delinsTG , CM000685.2:g.149490335_149490336delinsTG	GRCh38
NC_000023.10:g.148571866_148571867delinsTG , CM000685.1:g.148571866_148571867delinsTG	GRCh37
NC_000023.9:g.148379771_148379772delinsTG	NCBI36
NG_011900.3:g.19999_20000delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.984_985delinsCA MANE Select	ENSP00000339801.6:p.Ile328=
ENST00000651111.1:c.351_352delinsCA	ENSP00000498395.1:p.Ile117=
ENST00000340855.10:c.984_985delinsCA	ENSP00000339801.6:p.Ile328=
ENST00000370441.8:c.984_985delinsCA	ENSP00000359470.4:p.Ile328=
ENST00000422081.6:c.351_352delinsCA	ENSP00000477056.1:p.Ile117=
ENST00000441880.1:n.114-3238_114-3237delinsCA
ENST00000464251.5:c.910_911delinsCA	ENSP00000428980.1:n.910_911delinsCA
ENST00000466323.5:c.*175_*176delinsCA	ENSP00000418264.1:n.*175_*176delinsCA
ENST00000490775.5:n.769_770delinsCA
NM_000202.6:c.984_985delinsCA	NP_000193.1:p.Ile328=
NM_001166550.2:c.714_715delinsCA	NP_001160022.1:p.Ile238=
NM_006123.4:c.984_985delinsCA	NP_006114.1:p.Ile328=
NR_104128.1:n.1331_1332delinsCA
NM_000202.7:c.984_985delinsCA	NP_000193.1:p.Ile328=
NM_001166550.3:c.714_715delinsCA	NP_001160022.1:p.Ile238=
NM_000202.8:c.984_985delinsCA MANE Select	NP_000193.1:p.Ile328=
NM_001166550.4:c.714_715delinsCA	NP_001160022.1:p.Ile238=
NM_006123.5:c.984_985delinsCA	NP_006114.1:p.Ile328=
NR_104128.2:n.1283_1284delinsCA