Canonical Allele Identifier: CA2535912108

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483057_149483058del , CM000685.2:g.149483057_149483058del	GRCh38
NC_000023.10:g.148564588_148564589del , CM000685.1:g.148564588_148564589del	GRCh37
NC_000023.9:g.148372493_148372494del	NCBI36
NG_011900.3:g.27277_27278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1341_1342del MANE Select	ENSP00000339801.6:p.Glu448ArgfsTer8
ENST00000651111.1:c.708_709del	ENSP00000498395.1:p.Glu237ArgfsTer8
ENST00000340855.10:c.1341_1342del	ENSP00000339801.6:p.Glu448ArgfsTer8
ENST00000422081.6:c.708_709del	ENSP00000477056.1:p.Glu237ArgfsTer8
NM_000202.6:c.1341_1342del	NP_000193.1:p.Glu448ArgfsTer8
NM_001166550.2:c.1071_1072del	NP_001160022.1:p.Glu358ArgfsTer8
NM_000202.7:c.1341_1342del	NP_000193.1:p.Glu448ArgfsTer8
NM_001166550.3:c.1071_1072del	NP_001160022.1:p.Glu358ArgfsTer8
NM_000202.8:c.1341_1342del MANE Select	NP_000193.1:p.Glu448ArgfsTer8
NM_001166550.4:c.1071_1072del	NP_001160022.1:p.Glu358ArgfsTer8