Canonical Allele Identifier: CA2695236519

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483102_149483106dup , CM000685.2:g.149483102_149483106dup	GRCh38
NC_000023.10:g.148564633_148564637dup , CM000685.1:g.148564633_148564637dup	GRCh37
NC_000023.9:g.148372538_148372542dup	NCBI36
NG_011900.3:g.27230_27234dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1294_1298dup MANE Select	ENSP00000339801.6:p.Arg433SerfsTer9
ENST00000651111.1:c.661_665dup	ENSP00000498395.1:p.Arg222SerfsTer9
ENST00000340855.10:c.1294_1298dup	ENSP00000339801.6:p.Arg433SerfsTer9
ENST00000422081.6:c.661_665dup	ENSP00000477056.1:p.Arg222SerfsTer9
ENST00000441880.1:n.401_405dup
NM_000202.6:c.1294_1298dup	NP_000193.1:p.Arg433SerfsTer9
NM_001166550.2:c.1024_1028dup	NP_001160022.1:p.Arg343SerfsTer9
NM_000202.7:c.1294_1298dup	NP_000193.1:p.Arg433SerfsTer9
NM_001166550.3:c.1024_1028dup	NP_001160022.1:p.Arg343SerfsTer9
NM_000202.8:c.1294_1298dup MANE Select	NP_000193.1:p.Arg433SerfsTer9
NM_001166550.4:c.1024_1028dup	NP_001160022.1:p.Arg343SerfsTer9