Canonical Allele Identifier: CA16041483
Gene: SMPD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370363
ClinVar RCV Id: RCV000411726
dbSNP Id: rs1057516432

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6393269_6393270del , CM000673.2:g.6393269_6393270del GRCh38
NC_000011.8:g.6371075_6371076del NCBI36
NC_000011.9:g.6414499_6414500del , CM000673.1:g.6414499_6414500del GRCh37
NG_011780.1:g.7845_7846del
NG_029615.1:g.31151_31152del

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.8:c.1145_1146del ENSP00000340409.4:p.Leu382GlnfsTer8
ENST00000526280.1:n.321-348_321-347del
ENST00000527275.5:c.1142_1143del ENSP00000435350.1:p.Leu381GlnfsTer8
ENST00000531303.5:c.492_493del ENSP00000432625.1:p.Gln165IlefsTer2
ENST00000533123.5:c.1092-348_1092-347del ENSP00000435950.1:p.=
ENST00000534405.5:c.1185_1186del ENSP00000434353.1:p.Gln396IlefsTer2
NM_000543.4:c.1145_1146del VV NP_000534.3:p.Leu382GlnfsTer8
NM_001007593.2:c.1142_1143del VV NP_001007594.2:p.Leu381GlnfsTer8
XM_005253075.3:c.1145_1146del XP_005253132.1:p.Leu382GlnfsTer8
XM_011520303.1:c.1132-348_1132-347del XP_011518605.1:p.=
XM_011520304.1:c.1132-348_1132-347del XP_011518606.1:p.=
XR_930886.1:n.1483_1484del