Canonical Allele Identifier: CA2612222824
Gene: SMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6393220_6393244del , CM000673.2:g.6393220_6393244del GRCh38
NC_000011.9:g.6414450_6414474del , CM000673.1:g.6414450_6414474del GRCh37
NC_000011.8:g.6371026_6371050del NCBI36
NG_011780.1:g.7796_7820del
NG_029615.1:g.31172_31196del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.1096_1120del MANE Select ENSP00000340409.4:p.Gly366ThrfsTer11
ENST00000342245.8:c.1096_1120del ENSP00000340409.4:p.Gly366ThrfsTer11
ENST00000526280.1:c.321-397_321-373del
ENST00000527275.5:c.1093_1117del ENSP00000435350.1:p.Gly365ThrfsTer11
ENST00000531303.5:c.443_467del ENSP00000432625.1:p.Trp148TyrfsTer?
ENST00000533123.5:c.1092-397_1092-373del ENSP00000435950.1:n.1092-397_1092-373del
ENST00000534405.5:c.1136_1160del ENSP00000434353.1:p.Trp379TyrfsTer?
NM_000543.4:c.1096_1120del NP_000534.3:p.Gly366ThrfsTer11
NM_001007593.2:c.1093_1117del NP_001007594.2:p.Gly365ThrfsTer11
XM_005253075.3:c.1096_1120del XP_005253132.1:p.Gly366ThrfsTer11
XM_011520303.1:c.1132-397_1132-373del XP_011518605.1:n.1132-397_1132-373del
XM_011520304.1:c.1132-397_1132-373del XP_011518606.1:n.1132-397_1132-373del
XR_930886.1:n.1434_1458del
NM_001318087.1:c.1096_1120del NP_001305016.1:p.Gly366ThrfsTer11
NM_001318088.1:c.175_199del NP_001305017.1:p.Gly59ThrfsTer11
NM_001365135.1:c.1132-397_1132-373del NP_001352064.1:n.1132-397_1132-373del
NR_027400.2:n.1277-397_1277-373del
NR_134502.1:n.628_652del
XM_011520304.2:c.1132-397_1132-373del XP_011518606.1:n.1132-397_1132-373del
XR_001747940.2:n.1261_1285del
XR_002957158.1:n.1261_1285del
NM_000543.5:c.1096_1120del MANE Select NP_000534.3:p.Gly366ThrfsTer11
NM_001007593.3:c.1093_1117del NP_001007594.2:p.Gly365ThrfsTer11
NM_001318087.2:c.1096_1120del NP_001305016.1:p.Gly366ThrfsTer11
NM_001318088.2:c.175_199del NP_001305017.1:p.Gly59ThrfsTer11
NM_001365135.2:c.1132-397_1132-373del NP_001352064.1:n.1132-397_1132-373del
NR_027400.3:n.1217-397_1217-373del
NR_134502.2:n.568_592del