Canonical Allele Identifier: CA2695236522

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483125_149483128del , CM000685.2:g.149483125_149483128del	GRCh38
NC_000023.10:g.148564656_148564659del , CM000685.1:g.148564656_148564659del	GRCh37
NC_000023.9:g.148372561_148372564del	NCBI36
NG_011900.3:g.27210_27213del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1274_1277del MANE Select	ENSP00000339801.6:p.Pro425HisfsTer14
ENST00000651111.1:c.641_644del	ENSP00000498395.1:p.Pro214HisfsTer14
ENST00000340855.10:c.1274_1277del	ENSP00000339801.6:p.Pro425HisfsTer14
ENST00000422081.6:c.641_644del	ENSP00000477056.1:p.Pro214HisfsTer14
ENST00000441880.1:n.381_384del
NM_000202.6:c.1274_1277del	NP_000193.1:p.Pro425HisfsTer14
NM_001166550.2:c.1004_1007del	NP_001160022.1:p.Pro335HisfsTer14
NM_000202.7:c.1274_1277del	NP_000193.1:p.Pro425HisfsTer14
NM_001166550.3:c.1004_1007del	NP_001160022.1:p.Pro335HisfsTer14
NM_000202.8:c.1274_1277del MANE Select	NP_000193.1:p.Pro425HisfsTer14
NM_001166550.4:c.1004_1007del	NP_001160022.1:p.Pro335HisfsTer14