Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: SMPD1 HGNC NCBI

HGVS (amino-acid)	Transcript change
ENSP00000432625.1:p.Gln165_Pro171delinsIle	ENST00000531303.5:c.492_493del ENST00000531303.5:c.[492_493del;495A=] ENST00000531303.5:c.[492_493del;495A=;497... ENST00000531303.5:c.[492_493del;495A=;497... ENST00000531303.5:c.[492_493del;496T=] ENST00000531303.5:c.[492_493del;497A>C] ENST00000531303.5:c.[492_493del;497A>T] ENST00000531303.5:c.[493del;495A>T]