Canonical Allele Identifier: CA2739289614

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483056_149483058delinsCA , CM000685.2:g.149483056_149483058delinsCA	GRCh38
NC_000023.10:g.148564587_148564589delinsCA , CM000685.1:g.148564587_148564589delinsCA	GRCh37
NC_000023.9:g.148372492_148372494delinsCA	NCBI36
NG_011900.3:g.27277_27279delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1341_1343delinsTG MANE Select	ENSP00000339801.6:p.Leu447PhefsTer14
ENST00000651111.1:c.708_710delinsTG	ENSP00000498395.1:p.Leu236PhefsTer14
ENST00000340855.10:c.1341_1343delinsTG	ENSP00000339801.6:p.Leu447PhefsTer14
ENST00000422081.6:c.708_710delinsTG	ENSP00000477056.1:p.Leu236PhefsTer14
NM_000202.6:c.1341_1343delinsTG	NP_000193.1:p.Leu447PhefsTer14
NM_001166550.2:c.1071_1073delinsTG	NP_001160022.1:p.Leu357PhefsTer14
NM_000202.7:c.1341_1343delinsTG	NP_000193.1:p.Leu447PhefsTer14
NM_001166550.3:c.1071_1073delinsTG	NP_001160022.1:p.Leu357PhefsTer14
NM_000202.8:c.1341_1343delinsTG MANE Select	NP_000193.1:p.Leu447PhefsTer14
NM_001166550.4:c.1071_1073delinsTG	NP_001160022.1:p.Leu357PhefsTer14