Canonical Allele Identifier: CA1950148774
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6393872_6393876delinsCTGAA , CM000673.2:g.6393872_6393876delinsCTGAA GRCh38
NC_000011.9:g.6415102_6415106delinsCTGAA , CM000673.1:g.6415102_6415106delinsCTGAA GRCh37
NC_000011.8:g.6371678_6371682delinsCTGAA NCBI36
NG_011780.1:g.8448_8452delinsCTGAA
NG_029615.1:g.30539_30543delinsTTCAG

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.1341-24_1341-20delinsCTGAA MANE Select ENSP00000340409.4:n.1341-24_1341-20delins...
ENST00000342245.8:c.1341-24_1341-20delinsCTGAA ENSP00000340409.4:n.1341-24_1341-20delins...
ENST00000526280.1:c.398-24_398-20delinsCTGAA
ENST00000527275.5:c.1338-24_1338-20delinsCTGAA ENSP00000435350.1:n.1338-24_1338-20delins...
ENST00000531303.5:c.*172-24_*172-20delinsCTGAA ENSP00000432625.1:n.*172-24_*172-20delins...
ENST00000531336.1:n.173-24_173-20delinsCTGAA
ENST00000532367.1:n.177-24_177-20delinsCTGAA
ENST00000533123.5:c.*68-24_*68-20delinsCTGAA ENSP00000435950.1:n.*68-24_*68-20delinsCT...
ENST00000534405.5:c.*172-24_*172-20delinsCTGAA ENSP00000434353.1:n.*172-24_*172-20delins...
NM_000543.4:c.1341-24_1341-20delinsCTGAA NP_000534.3:n.1341-24_1341-20delinsCTGAA
NM_001007593.2:c.1338-24_1338-20delinsCTGAA NP_001007594.2:n.1338-24_1338-20delinsCTG...
XM_005253075.3:c.1341-24_1341-20delinsCTGAA XP_005253132.1:n.1341-24_1341-20delinsCTG...
XM_011520303.1:c.1209-24_1209-20delinsCTGAA XP_011518605.1:n.1209-24_1209-20delinsCTG...
XM_011520304.1:c.1209-24_1209-20delinsCTGAA XP_011518606.1:n.1209-24_1209-20delinsCTG...
XR_930886.1:n.1679-24_1679-20delinsCTGAA
NM_001318087.1:c.1341-24_1341-20delinsCTGAA NP_001305016.1:n.1341-24_1341-20delinsCTG...
NM_001318088.1:c.420-24_420-20delinsCTGAA NP_001305017.1:n.420-24_420-20delinsCTGAA...
NM_001365135.1:c.1209-24_1209-20delinsCTGAA NP_001352064.1:n.1209-24_1209-20delinsCTG...
NR_027400.2:n.1354-24_1354-20delinsCTGAA
NR_134502.1:n.873-24_873-20delinsCTGAA
XM_011520304.2:c.1209-24_1209-20delinsCTGAA XP_011518606.1:n.1209-24_1209-20delinsCTG...
XR_001747940.2:n.1506-24_1506-20delinsCTGAA
XR_002957158.1:n.1684_1688delinsCTGAA
NM_000543.5:c.1341-24_1341-20delinsCTGAA MANE Select NP_000534.3:n.1341-24_1341-20delinsCTGAA
NM_001007593.3:c.1338-24_1338-20delinsCTGAA NP_001007594.2:n.1338-24_1338-20delinsCTG...
NM_001318087.2:c.1341-24_1341-20delinsCTGAA NP_001305016.1:n.1341-24_1341-20delinsCTG...
NM_001318088.2:c.420-24_420-20delinsCTGAA NP_001305017.1:n.420-24_420-20delinsCTGAA...
NM_001365135.2:c.1209-24_1209-20delinsCTGAA NP_001352064.1:n.1209-24_1209-20delinsCTG...
NR_027400.3:n.1294-24_1294-20delinsCTGAA
NR_134502.2:n.813-24_813-20delinsCTGAA