Canonical Allele Identifier: CA2499214963
Gene: SMPD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.130156599del , CM000664.2:g.130156599del GRCh38
NC_000002.11:g.130914172del , CM000664.1:g.130914172del GRCh37
NC_000002.10:g.130630642del NCBI36
NG_053070.1:g.31152del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435455.6:c.563del
ENST00000680196.1:c.*171del ENSP00000505151.1:n.*171del
ENST00000680298.1:c.1174del MANE Select ENSP00000506463.1:p.Ala392HisfsTer11
ENST00000680401.1:c.-24del ENSP00000506367.1:n.-24del
ENST00000680679.1:c.1225del ENSP00000505716.1:p.Ala409HisfsTer11
ENST00000680810.1:c.1174del ENSP00000505271.1:p.Ala392HisfsTer?
ENST00000680987.1:c.*281del ENSP00000506346.1:n.*281del
ENST00000351288.10:c.1204del ENSP00000259217.8:p.Ala402HisfsTer11
ENST00000409031.5:c.1291del ENSP00000386531.1:p.Ala431HisfsTer11
ENST00000412570.5:c.*861del ENSP00000403002.1:n.*861del
ENST00000430682.5:c.350-464del
ENST00000431183.6:c.985del ENSP00000405187.2:p.Ala329HisfsTer11
ENST00000433118.5:c.*592del ENSP00000397278.1:n.*592del
ENST00000435455.5:c.234del ENSP00000393791.1:p.His79IlefsTer21
ENST00000439886.5:c.915del
ENST00000451542.5:c.535del ENSP00000405363.1:p.Ala179HisfsTer11
ENST00000454468.5:c.*878del ENSP00000407591.1:n.*878del
ENST00000455548.2:n.443del
ENST00000457039.6:c.82del ENSP00000397078.2:p.Ala28HisfsTer11
ENST00000473720.5:n.432del
ENST00000482171.5:n.780del
NM_001171083.2:c.985del NP_001164554.1:p.Ala329HisfsTer11
NM_017751.4:c.1204del NP_060221.2:p.Ala402HisfsTer11
NM_017951.4:c.1291del NP_060421.2:p.Ala431HisfsTer11
NR_033230.2:n.2440del
NR_033231.2:n.1304del
NR_033232.2:n.1284del
XM_011511443.1:c.1525del XP_011509745.1:p.Ala509HisfsTer11
XM_011511444.1:c.1438del XP_011509746.1:p.Ala480HisfsTer11
XM_011511445.1:c.898del XP_011509747.1:p.Ala300HisfsTer11
XM_011511443.2:c.1525del XP_011509745.1:p.Ala509HisfsTer11
XM_011511444.3:c.1438del XP_011509746.1:p.Ala480HisfsTer11
XM_011511445.2:c.898del XP_011509747.1:p.Ala300HisfsTer11
XM_017004448.2:c.514del XP_016859937.1:p.Ala172HisfsTer11
XM_017004449.2:c.-24del XP_016859938.1:n.-24del
XM_024452978.1:c.514del XP_024308746.1:p.Ala172HisfsTer11
NR_033231.3:n.1149del
NR_033232.3:n.1129del
NM_017951.5:c.1174del MANE Select NP_060421.3:p.Ala392HisfsTer11