Canonical Allele Identifier: CA2695213129
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6393391_6393394del , CM000673.2:g.6393391_6393394del GRCh38
NC_000011.9:g.6414621_6414624del , CM000673.1:g.6414621_6414624del GRCh37
NC_000011.8:g.6371197_6371200del NCBI36
NG_011780.1:g.7967_7970del
NG_029615.1:g.31022_31025del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.1263+4_1263+7del MANE Select ENSP00000340409.4:n.1263+4_1263+7del
ENST00000342245.8:c.1263+4_1263+7del ENSP00000340409.4:n.1263+4_1263+7del
ENST00000526280.1:c.321-226_321-223del
ENST00000527275.5:c.1260+4_1260+7del ENSP00000435350.1:n.1260+4_1260+7del
ENST00000531303.5:c.*94+4_*94+7del ENSP00000432625.1:n.*94+4_*94+7del
ENST00000531336.1:n.95+4_95+7del
ENST00000533123.5:c.1092-226_1092-223del ENSP00000435950.1:n.1092-226_1092-223del
ENST00000534405.5:c.*94+4_*94+7del ENSP00000434353.1:n.*94+4_*94+7del
NM_000543.4:c.1263+4_1263+7del NP_000534.3:n.1263+4_1263+7del
NM_001007593.2:c.1260+4_1260+7del NP_001007594.2:n.1260+4_1260+7del
XM_005253075.3:c.1263+4_1263+7del XP_005253132.1:n.1263+4_1263+7del
XM_011520303.1:c.1132-226_1132-223del XP_011518605.1:n.1132-226_1132-223del
XM_011520304.1:c.1132-226_1132-223del XP_011518606.1:n.1132-226_1132-223del
XR_930886.1:n.1601+4_1601+7del
NM_001318087.1:c.1263+4_1263+7del NP_001305016.1:n.1263+4_1263+7del
NM_001318088.1:c.342+4_342+7del NP_001305017.1:n.342+4_342+7del
NM_001365135.1:c.1132-226_1132-223del NP_001352064.1:n.1132-226_1132-223del
NR_027400.2:n.1277-226_1277-223del
NR_134502.1:n.795+4_795+7del
XM_011520304.2:c.1132-226_1132-223del XP_011518606.1:n.1132-226_1132-223del
XR_001747940.2:n.1428+4_1428+7del
XR_002957158.1:n.1428+4_1428+7del
NM_000543.5:c.1263+4_1263+7del MANE Select NP_000534.3:n.1263+4_1263+7del
NM_001007593.3:c.1260+4_1260+7del NP_001007594.2:n.1260+4_1260+7del
NM_001318087.2:c.1263+4_1263+7del NP_001305016.1:n.1263+4_1263+7del
NM_001318088.2:c.342+4_342+7del NP_001305017.1:n.342+4_342+7del
NM_001365135.2:c.1132-226_1132-223del NP_001352064.1:n.1132-226_1132-223del
NR_027400.3:n.1217-226_1217-223del
NR_134502.2:n.735+4_735+7del