Canonical Allele Identifier: CA1950149558
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6394292_6394294delinsCAT , CM000673.2:g.6394292_6394294delinsCAT GRCh38
NC_000011.9:g.6415522_6415524delinsCAT , CM000673.1:g.6415522_6415524delinsCAT GRCh37
NC_000011.8:g.6372098_6372100delinsCAT NCBI36
NG_011780.1:g.8868_8870delinsCAT
NG_029615.1:g.30121_30123delinsATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.1581_1583delinsCAT MANE Select ENSP00000340409.4:p.Asn527=
ENST00000342245.8:c.1581_1583delinsCAT ENSP00000340409.4:p.Asn527=
ENST00000526280.1:c.638_640delinsCAT
ENST00000527275.5:c.1578_1580delinsCAT ENSP00000435350.1:p.Asn526=
ENST00000531303.5:c.*432_*434delinsCAT ENSP00000432625.1:n.*432_*434delinsCAT
ENST00000531336.1:n.569_571delinsCAT
ENST00000533123.5:c.*308_*310delinsCAT ENSP00000435950.1:n.*308_*310delinsCAT
ENST00000534405.5:c.*412_*414delinsCAT ENSP00000434353.1:n.*412_*414delinsCAT
NM_000543.4:c.1581_1583delinsCAT NP_000534.3:p.Asn527=
NM_001007593.2:c.1578_1580delinsCAT NP_001007594.2:p.Asn526=
XM_005253075.3:c.*74_*76delinsCAT XP_005253132.1:n.*74_*76delinsCAT
XM_011520303.1:c.1449_1451delinsCAT XP_011518605.1:p.Asn483=
XM_011520304.1:c.*74_*76delinsCAT XP_011518606.1:n.*74_*76delinsCAT
NM_001318087.1:c.*74_*76delinsCAT NP_001305016.1:n.*74_*76delinsCAT
NM_001318088.1:c.660_662delinsCAT NP_001305017.1:p.Asn220=
NM_001365135.1:c.1449_1451delinsCAT NP_001352064.1:p.Asn483=
NR_027400.2:n.1594_1596delinsCAT
NR_134502.1:n.1133_1135delinsCAT
XM_011520304.2:c.*74_*76delinsCAT XP_011518606.1:n.*74_*76delinsCAT
XR_001747940.2:n.1766_1768delinsCAT
XR_002957158.1:n.1948_1950delinsCAT
NM_000543.5:c.1581_1583delinsCAT MANE Select NP_000534.3:p.Asn527=
NM_001007593.3:c.1578_1580delinsCAT NP_001007594.2:p.Asn526=
NM_001318087.2:c.*74_*76delinsCAT NP_001305016.1:n.*74_*76delinsCAT
NM_001318088.2:c.660_662delinsCAT NP_001305017.1:p.Asn220=
NM_001365135.2:c.1449_1451delinsCAT NP_001352064.1:p.Asn483=
NR_027400.3:n.1534_1536delinsCAT
NR_134502.2:n.1073_1075delinsCAT