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
ENSP00000434353.1:p.Gln396_Pro402delinsIle	ENST00000534405.5:c.1185_1186del ENST00000534405.5:c.[1185_1186del;1188A=]... ENST00000534405.5:c.[1185_1186del;1188A=;... ENST00000534405.5:c.[1185_1186del;1188A=;... ENST00000534405.5:c.[1185_1186del;1189T=]... ENST00000534405.5:c.[1185_1186del;1190A>C... ENST00000534405.5:c.[1185_1186del;1190A>T... ENST00000534405.5:c.[1186del;1188A>T]