Canonical Allele Identifier: CA1950147696
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6393197_6393199delinsCAT , CM000673.2:g.6393197_6393199delinsCAT GRCh38
NC_000011.9:g.6414427_6414429delinsCAT , CM000673.1:g.6414427_6414429delinsCAT GRCh37
NC_000011.8:g.6371003_6371005delinsCAT NCBI36
NG_011780.1:g.7773_7775delinsCAT
NG_029615.1:g.31216_31218delinsATG

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.1092-19_1092-17delinsCAT MANE Select ENSP00000340409.4:n.1092-19_1092-17delins...
ENST00000342245.8:c.1092-19_1092-17delinsCAT ENSP00000340409.4:n.1092-19_1092-17delins...
ENST00000526280.1:c.321-420_321-418delinsCAT
ENST00000527275.5:c.1089-19_1089-17delinsCAT ENSP00000435350.1:n.1089-19_1089-17delins...
ENST00000531303.5:c.439-19_439-17delinsCAT ENSP00000432625.1:n.439-19_439-17delinsCA...
ENST00000533123.5:c.1092-420_1092-418delinsCAT ENSP00000435950.1:n.1092-420_1092-418deli...
ENST00000534405.5:c.1132-19_1132-17delinsCAT ENSP00000434353.1:n.1132-19_1132-17delins...
NM_000543.4:c.1092-19_1092-17delinsCAT NP_000534.3:n.1092-19_1092-17delinsCAT
NM_001007593.2:c.1089-19_1089-17delinsCAT NP_001007594.2:n.1089-19_1089-17delinsCAT...
XM_005253075.3:c.1092-19_1092-17delinsCAT XP_005253132.1:n.1092-19_1092-17delinsCAT...
XM_011520303.1:c.1132-420_1132-418delinsCAT XP_011518605.1:n.1132-420_1132-418delinsC...
XM_011520304.1:c.1132-420_1132-418delinsCAT XP_011518606.1:n.1132-420_1132-418delinsC...
XR_930886.1:n.1430-19_1430-17delinsCAT
NM_001318087.1:c.1092-19_1092-17delinsCAT NP_001305016.1:n.1092-19_1092-17delinsCAT...
NM_001318088.1:c.171-19_171-17delinsCAT NP_001305017.1:n.171-19_171-17delinsCAT
NM_001365135.1:c.1132-420_1132-418delinsCAT NP_001352064.1:n.1132-420_1132-418delinsC...
NR_027400.2:n.1277-420_1277-418delinsCAT
NR_134502.1:n.624-19_624-17delinsCAT
XM_011520304.2:c.1132-420_1132-418delinsCAT XP_011518606.1:n.1132-420_1132-418delinsC...
XR_001747940.2:n.1257-19_1257-17delinsCAT
XR_002957158.1:n.1257-19_1257-17delinsCAT
NM_000543.5:c.1092-19_1092-17delinsCAT MANE Select NP_000534.3:n.1092-19_1092-17delinsCAT
NM_001007593.3:c.1089-19_1089-17delinsCAT NP_001007594.2:n.1089-19_1089-17delinsCAT...
NM_001318087.2:c.1092-19_1092-17delinsCAT NP_001305016.1:n.1092-19_1092-17delinsCAT...
NM_001318088.2:c.171-19_171-17delinsCAT NP_001305017.1:n.171-19_171-17delinsCAT
NM_001365135.2:c.1132-420_1132-418delinsCAT NP_001352064.1:n.1132-420_1132-418delinsC...
NR_027400.3:n.1217-420_1217-418delinsCAT
NR_134502.2:n.564-19_564-17delinsCAT