Canonical Allele Identifier: CA2579719105

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483082del , CM000685.2:g.149483082del	GRCh38
NC_000023.10:g.148564613del , CM000685.1:g.148564613del	GRCh37
NC_000023.9:g.148372518del	NCBI36
NG_011900.3:g.27253del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1317del MANE Select	ENSP00000339801.6:p.Lys440SerfsTer21
ENST00000651111.1:c.684del	ENSP00000498395.1:p.Lys229SerfsTer21
ENST00000340855.10:c.1317del	ENSP00000339801.6:p.Lys440SerfsTer21
ENST00000422081.6:c.684del	ENSP00000477056.1:p.Lys229SerfsTer21
NM_000202.6:c.1317del	NP_000193.1:p.Lys440SerfsTer21
NM_001166550.2:c.1047del	NP_001160022.1:p.Lys350SerfsTer21
NM_000202.7:c.1317del	NP_000193.1:p.Lys440SerfsTer21
NM_001166550.3:c.1047del	NP_001160022.1:p.Lys350SerfsTer21
NM_000202.8:c.1317del MANE Select	NP_000193.1:p.Lys440SerfsTer21
NM_001166550.4:c.1047del	NP_001160022.1:p.Lys350SerfsTer21