Canonical Allele Identifier: CA2695236477

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482819_149482832dup , CM000685.2:g.149482819_149482832dup	GRCh38
NC_000023.10:g.148564350_148564363dup , CM000685.1:g.148564350_148564363dup	GRCh37
NC_000023.9:g.148372255_148372268dup	NCBI36
NG_011900.3:g.27504_27517dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1568_1581dup MANE Select	ENSP00000339801.6:p.Asp528IlefsTer26
ENST00000651111.1:c.935_948dup	ENSP00000498395.1:p.Asp317IlefsTer26
ENST00000340855.10:c.1568_1581dup	ENSP00000339801.6:p.Asp528IlefsTer26
ENST00000422081.6:c.935_948dup	ENSP00000477056.1:p.Asp317IlefsTer26
NM_000202.6:c.1568_1581dup	NP_000193.1:p.Asp528IlefsTer26
NM_001166550.2:c.1298_1311dup	NP_001160022.1:p.Asp438IlefsTer26
NM_000202.7:c.1568_1581dup	NP_000193.1:p.Asp528IlefsTer26
NM_001166550.3:c.1298_1311dup	NP_001160022.1:p.Asp438IlefsTer26
NM_000202.8:c.1568_1581dup MANE Select	NP_000193.1:p.Asp528IlefsTer26
NM_001166550.4:c.1298_1311dup	NP_001160022.1:p.Asp438IlefsTer26