Canonical Allele Identifier: CA2842037725

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503488dup , CM000685.2:g.149503488dup	GRCh38
NC_000023.10:g.148585018dup , CM000685.1:g.148585018dup	GRCh37
NC_000023.9:g.148392923dup	NCBI36
NG_011900.3:g.6848dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.243dup MANE Select	ENSP00000339801.6:p.Ala82SerfsTer17
ENST00000651111.1:c.-215-2450dup	ENSP00000498395.1:n.-215-2450dup
ENST00000340855.10:c.243dup	ENSP00000339801.6:p.Ala82SerfsTer17
ENST00000370441.8:c.243dup	ENSP00000359470.4:p.Ala82SerfsTer17
ENST00000422081.6:c.-215-2450dup	ENSP00000477056.1:n.-215-2450dup
ENST00000427113.2:n.770-1264dup
ENST00000428056.6:c.243dup	ENSP00000390241.2:p.Ala82SerfsTer17
ENST00000441880.1:n.114-16389dup
ENST00000464251.5:c.66dup	ENSP00000428980.1:p.Ala23SerfsTer17
ENST00000466323.5:c.243dup	ENSP00000418264.1:p.Ala82SerfsTer17
ENST00000521702.1:c.243dup	ENSP00000429745.1:p.Ala82SerfsTer?
ENST00000523759.5:n.533-2450dup
NM_000202.6:c.243dup	NP_000193.1:p.Ala82SerfsTer17
NM_001166550.2:c.15-42dup	NP_001160022.1:n.15-42dup
NM_006123.4:c.243dup	NP_006114.1:p.Ala82SerfsTer17
NR_104128.1:n.460dup
NM_000202.7:c.243dup	NP_000193.1:p.Ala82SerfsTer17
NM_001166550.3:c.15-42dup	NP_001160022.1:n.15-42dup
NM_000202.8:c.243dup MANE Select	NP_000193.1:p.Ala82SerfsTer17
NM_001166550.4:c.15-42dup	NP_001160022.1:n.15-42dup
NM_006123.5:c.243dup	NP_006114.1:p.Ala82SerfsTer17
NR_104128.2:n.412dup