Canonical Allele Identifier: CA2474082054
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46192138_46192139delinsTG , CM000663.2:g.46192138_46192139delinsTG GRCh38
NC_000001.10:g.46657810_46657811delinsTG , CM000663.1:g.46657810_46657811delinsTG GRCh37
NC_000001.9:g.46430397_46430398delinsTG NCBI36
NG_009205.2:g.33167_33168delinsCA
NG_009205.3:g.33167_33168delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1498_1499delinsCA (POMGNT1) ENSP00000379698.4:p.His500=
ENST00000477114.2:n.2060_2061delinsCA (POMGNT1)
ENST00000497439.6:n.1670_1671delinsCA (POMGNT1)
ENST00000684817.1:n.1858_1859delinsCA (POMGNT1)
ENST00000684898.1:n.2060_2061delinsCA (POMGNT1)
ENST00000685230.1:c.*808_*809delinsCA (POMGNT1) ENSP00000510305.1:n.*808_*809delinsCA
ENST00000685275.1:n.2045_2046delinsCA (POMGNT1)
ENST00000685444.1:c.1399_1400delinsCA (POMGNT1) ENSP00000510762.1:p.His467=
ENST00000685704.1:n.2060_2061delinsCA (POMGNT1)
ENST00000685775.1:n.3025_3026delinsCA (POMGNT1)
ENST00000685833.1:n.2376_2377delinsCA (POMGNT1)
ENST00000686252.1:n.2572_2573delinsCA (POMGNT1)
ENST00000686379.1:c.*622_*623delinsCA (POMGNT1) ENSP00000508913.1:n.*622_*623delinsCA
ENST00000686724.1:n.1670_1671delinsCA (POMGNT1)
ENST00000686737.1:c.1498_1499delinsCA (POMGNT1) ENSP00000508736.1:p.His500=
ENST00000687112.1:n.2364_2365delinsCA (POMGNT1)
ENST00000687149.1:c.1498_1499delinsCA (POMGNT1) ENSP00000509745.1:p.His500=
ENST00000687197.1:c.*438_*439delinsCA (POMGNT1) ENSP00000510749.1:n.*438_*439delinsCA
ENST00000687235.1:n.2060_2061delinsCA (POMGNT1)
ENST00000687613.1:n.2248_2249delinsCA (POMGNT1)
ENST00000687683.1:c.1498_1499delinsCA (POMGNT1) ENSP00000508522.1:p.His500=
ENST00000688032.1:n.2060_2061delinsCA (POMGNT1)
ENST00000688596.1:n.2149_2150delinsCA (POMGNT1)
ENST00000688608.1:c.1399_1400delinsCA (POMGNT1) ENSP00000508890.1:p.His467=
ENST00000688919.1:n.2694_2695delinsCA (POMGNT1)
ENST00000689031.1:n.2060_2061delinsCA (POMGNT1)
ENST00000689717.1:n.1670_1671delinsCA (POMGNT1)
ENST00000689756.1:c.*1130_*1131delinsCA (POMGNT1) ENSP00000509023.1:n.*1130_*1131delinsCA
ENST00000690377.1:n.1845_1846delinsCA (POMGNT1)
ENST00000690678.1:c.1498_1499delinsCA (POMGNT1) ENSP00000508703.1:p.His500=
ENST00000691209.1:c.*438_*439delinsCA (POMGNT1) ENSP00000510112.1:n.*438_*439delinsCA
ENST00000691243.1:c.1498_1499delinsCA (POMGNT1) ENSP00000510654.1:p.His500=
ENST00000692169.1:n.1647_1648delinsCA (POMGNT1)
ENST00000692202.1:n.2073_2074delinsCA (POMGNT1)
ENST00000692322.1:c.*1350_*1351delinsCA (POMGNT1) ENSP00000509017.1:n.*1350_*1351delinsCA
ENST00000692369.1:c.1498_1499delinsCA (POMGNT1) ENSP00000508453.1:p.His500=
ENST00000692599.1:n.2060_2061delinsCA (POMGNT1)
ENST00000692635.1:c.*438_*439delinsCA (POMGNT1) ENSP00000508425.1:n.*438_*439delinsCA
ENST00000693168.1:n.1759_1760delinsCA (POMGNT1)
ENST00000693218.1:c.1498_1499delinsCA (POMGNT1) ENSP00000510577.1:p.His500=
ENST00000693223.1:n.2446_2447delinsCA (POMGNT1)
ENST00000693365.1:n.4132_4133delinsCA (POMGNT1)
ENST00000371984.8:c.1498_1499delinsCA (POMGNT1) MANE Select ENSP00000361052.3:p.His500=
ENST00000371984.7:c.1498_1499delinsCA (POMGNT1) ENSP00000361052.3:p.His500=
ENST00000371992.1:c.1498_1499delinsCA (POMGNT1) ENSP00000361060.1:p.His500=
ENST00000396420.7:c.*1167_*1168delinsCA (POMGNT1) ENSP00000379698.3:n.*1167_*1168delinsCA
ENST00000463030.1:n.119_120delinsCA (POMGNT1)
ENST00000485714.1:n.884_885delinsCA (POMGNT1)
NM_001243766.1:c.1498_1499delinsCA (POMGNT1) NP_001230695.1:p.His500=
NM_001290129.1:c.1432_1433delinsCA (POMGNT1) NP_001277058.1:p.His478=
NM_001290130.1:c.1069_1070delinsCA (POMGNT1) NP_001277059.1:p.His357=
NM_017739.3:c.1498_1499delinsCA (POMGNT1) NP_060209.3:p.His500=
XM_005271010.1:c.1498_1499delinsCA (POMGNT1) XP_005271067.1:p.His500=
XM_006710755.1:c.1498_1499delinsCA (POMGNT1) XP_006710818.1:p.His500=
XM_006710756.1:c.1498_1499delinsCA (POMGNT1) XP_006710819.1:p.His500=
XM_011540460.1:c.679-4064_679-4063delinsTG (TSPAN1) XP_011538762.1:n.679-4064_679-4063delinsTG
XM_011540461.1:c.634-4064_634-4063delinsTG (TSPAN1) XP_011538763.1:n.634-4064_634-4063delinsTG
XM_011541759.1:c.1432_1433delinsCA (POMGNT1) XP_011540061.1:p.His478=
XM_011541760.1:c.1432_1433delinsCA (POMGNT1) XP_011540062.1:p.His478=
XM_011541761.1:c.406_407delinsCA (POMGNT1) XP_011540063.1:p.His136=
XM_011540460.3:c.679-4064_679-4063delinsTG (TSPAN1) XP_011538762.1:n.679-4064_679-4063delinsTG
XM_011541760.3:c.1432_1433delinsCA (POMGNT1) XP_011540062.1:p.His478=
XM_017001690.1:c.1498_1499delinsCA (POMGNT1) XP_016857179.1:p.His500=
NM_001243766.2:c.1498_1499delinsCA (POMGNT1) NP_001230695.2:p.His500=
NM_001290129.2:c.1432_1433delinsCA (POMGNT1) NP_001277058.2:p.His478=
NM_001290130.2:c.1069_1070delinsCA (POMGNT1) NP_001277059.2:p.His357=
NM_017739.4:c.1498_1499delinsCA (POMGNT1) MANE Select NP_060209.4:p.His500=