Canonical Allele Identifier: CA2499226421

Gene: IDS

Linked Data

• ClinVar Variation Id: 1065312
• ClinVar RCV Id: RCV001375843
• dbSNP Id: rs2124042006

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149496489del , CM000685.2:g.149496489del	GRCh38
NC_000023.10:g.148578020del , CM000685.1:g.148578020del	GRCh37
NC_000023.9:g.148385925del	NCBI36
NG_011900.3:g.13847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.737del MANE Select	ENSP00000339801.6:p.Asn246ThrfsTer?
ENST00000651111.1:c.104del	ENSP00000498395.1:p.Asn35ThrfsTer?
ENST00000340855.10:c.737del	ENSP00000339801.6:p.Asn246ThrfsTer?
ENST00000370441.8:c.737del	ENSP00000359470.4:p.Asn246ThrfsTer?
ENST00000422081.6:c.104del	ENSP00000477056.1:p.Asn35ThrfsTer?
ENST00000441880.1:n.114-9390del
ENST00000464251.5:c.663del	ENSP00000428980.1:n.663del
ENST00000466019.1:n.189del
ENST00000466323.5:c.737del	ENSP00000418264.1:p.Asn246ThrfsTer?
ENST00000490775.5:n.522del
NM_000202.6:c.737del	NP_000193.1:p.Asn246ThrfsTer?
NM_001166550.2:c.467del	NP_001160022.1:p.Asn156ThrfsTer?
NM_006123.4:c.737del	NP_006114.1:p.Asn246ThrfsTer?
NR_104128.1:n.954del
NM_000202.7:c.737del	NP_000193.1:p.Asn246ThrfsTer?
NM_001166550.3:c.467del	NP_001160022.1:p.Asn156ThrfsTer?
NM_000202.8:c.737del MANE Select	NP_000193.1:p.Asn246ThrfsTer?
NM_001166550.4:c.467del	NP_001160022.1:p.Asn156ThrfsTer?
NM_006123.5:c.737del	NP_006114.1:p.Asn246ThrfsTer?
NR_104128.2:n.906del