Canonical Allele Identifier: CA220496

Gene: IDS

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498220del , CM000685.2:g.149498220del	GRCh38
NC_000023.10:g.148579751del , CM000685.1:g.148579751del	GRCh37
NC_000023.9:g.148387656del	NCBI36
NG_011900.3:g.12117del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.597del MANE Select	ENSP00000339801.6:p.Lys199AsnfsTer14
ENST00000651111.1:c.-37del	ENSP00000498395.1:n.-37del
ENST00000340855.10:c.597del	ENSP00000339801.6:p.Lys199AsnfsTer14
ENST00000370441.8:c.597del	ENSP00000359470.4:p.Lys199AsnfsTer14
ENST00000422081.6:c.-37del	ENSP00000477056.1:n.-37del
ENST00000441880.1:n.114-11120del
ENST00000464251.5:c.523del	ENSP00000428980.1:n.523del
ENST00000466019.1:n.49del
ENST00000466323.5:c.597del	ENSP00000418264.1:p.Lys199AsnfsTer14
ENST00000490775.5:n.382del
ENST00000523759.5:n.711del
NM_000202.6:c.597del	NP_000193.1:p.Lys199AsnfsTer14
NM_001166550.2:c.327del	NP_001160022.1:p.Lys109AsnfsTer14
NM_006123.4:c.597del	NP_006114.1:p.Lys199AsnfsTer14
NR_104128.1:n.814del
NM_000202.7:c.597del	NP_000193.1:p.Lys199AsnfsTer14
NM_001166550.3:c.327del	NP_001160022.1:p.Lys109AsnfsTer14
NM_000202.8:c.597del MANE Select	NP_000193.1:p.Lys199AsnfsTer14
NM_001166550.4:c.327del	NP_001160022.1:p.Lys109AsnfsTer14
NM_006123.5:c.597del	NP_006114.1:p.Lys199AsnfsTer14
NR_104128.2:n.766del