Canonical Allele Identifier: CA1950147700
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6393198_6393202delinsATGTT , CM000673.2:g.6393198_6393202delinsATGTT GRCh38
NC_000011.9:g.6414428_6414432delinsATGTT , CM000673.1:g.6414428_6414432delinsATGTT GRCh37
NC_000011.8:g.6371004_6371008delinsATGTT NCBI36
NG_011780.1:g.7774_7778delinsATGTT
NG_029615.1:g.31213_31217delinsAACAT

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.1092-18_1092-14delinsATGTT MANE Select ENSP00000340409.4:n.1092-18_1092-14delins...
ENST00000342245.8:c.1092-18_1092-14delinsATGTT ENSP00000340409.4:n.1092-18_1092-14delins...
ENST00000526280.1:c.321-419_321-415delinsATGTT
ENST00000527275.5:c.1089-18_1089-14delinsATGTT ENSP00000435350.1:n.1089-18_1089-14delins...
ENST00000531303.5:c.439-18_439-14delinsATGTT ENSP00000432625.1:n.439-18_439-14delinsAT...
ENST00000533123.5:c.1092-419_1092-415delinsATGTT ENSP00000435950.1:n.1092-419_1092-415deli...
ENST00000534405.5:c.1132-18_1132-14delinsATGTT ENSP00000434353.1:n.1132-18_1132-14delins...
NM_000543.4:c.1092-18_1092-14delinsATGTT NP_000534.3:n.1092-18_1092-14delinsATGTT
NM_001007593.2:c.1089-18_1089-14delinsATGTT NP_001007594.2:n.1089-18_1089-14delinsATG...
XM_005253075.3:c.1092-18_1092-14delinsATGTT XP_005253132.1:n.1092-18_1092-14delinsATG...
XM_011520303.1:c.1132-419_1132-415delinsATGTT XP_011518605.1:n.1132-419_1132-415delinsA...
XM_011520304.1:c.1132-419_1132-415delinsATGTT XP_011518606.1:n.1132-419_1132-415delinsA...
XR_930886.1:n.1430-18_1430-14delinsATGTT
NM_001318087.1:c.1092-18_1092-14delinsATGTT NP_001305016.1:n.1092-18_1092-14delinsATG...
NM_001318088.1:c.171-18_171-14delinsATGTT NP_001305017.1:n.171-18_171-14delinsATGTT...
NM_001365135.1:c.1132-419_1132-415delinsATGTT NP_001352064.1:n.1132-419_1132-415delinsA...
NR_027400.2:n.1277-419_1277-415delinsATGTT
NR_134502.1:n.624-18_624-14delinsATGTT
XM_011520304.2:c.1132-419_1132-415delinsATGTT XP_011518606.1:n.1132-419_1132-415delinsA...
XR_001747940.2:n.1257-18_1257-14delinsATGTT
XR_002957158.1:n.1257-18_1257-14delinsATGTT
NM_000543.5:c.1092-18_1092-14delinsATGTT MANE Select NP_000534.3:n.1092-18_1092-14delinsATGTT
NM_001007593.3:c.1089-18_1089-14delinsATGTT NP_001007594.2:n.1089-18_1089-14delinsATG...
NM_001318087.2:c.1092-18_1092-14delinsATGTT NP_001305016.1:n.1092-18_1092-14delinsATG...
NM_001318088.2:c.171-18_171-14delinsATGTT NP_001305017.1:n.171-18_171-14delinsATGTT...
NM_001365135.2:c.1132-419_1132-415delinsATGTT NP_001352064.1:n.1132-419_1132-415delinsA...
NR_027400.3:n.1217-419_1217-415delinsATGTT
NR_134502.2:n.564-18_564-14delinsATGTT