Canonical Allele Identifier: CA2474082078
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46192206_46192208delinsCAT , CM000663.2:g.46192206_46192208delinsCAT GRCh38
NC_000001.10:g.46657878_46657880delinsCAT , CM000663.1:g.46657878_46657880delinsCAT GRCh37
NC_000001.9:g.46430465_46430467delinsCAT NCBI36
NG_009205.2:g.33098_33100delinsATG
NG_009205.3:g.33098_33100delinsATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1429_1431delinsATG (POMGNT1) ENSP00000379698.4:p.Met477=
ENST00000477114.2:n.1991_1993delinsATG (POMGNT1)
ENST00000497439.6:n.1601_1603delinsATG (POMGNT1)
ENST00000684817.1:n.1789_1791delinsATG (POMGNT1)
ENST00000684898.1:n.1991_1993delinsATG (POMGNT1)
ENST00000685230.1:c.*739_*741delinsATG (POMGNT1) ENSP00000510305.1:n.*739_*741delinsATG
ENST00000685275.1:n.1976_1978delinsATG (POMGNT1)
ENST00000685444.1:c.1330_1332delinsATG (POMGNT1) ENSP00000510762.1:p.Met444=
ENST00000685704.1:n.1991_1993delinsATG (POMGNT1)
ENST00000685775.1:n.2956_2958delinsATG (POMGNT1)
ENST00000685833.1:n.2307_2309delinsATG (POMGNT1)
ENST00000686252.1:n.2503_2505delinsATG (POMGNT1)
ENST00000686379.1:c.*553_*555delinsATG (POMGNT1) ENSP00000508913.1:n.*553_*555delinsATG
ENST00000686724.1:n.1601_1603delinsATG (POMGNT1)
ENST00000686737.1:c.1429_1431delinsATG (POMGNT1) ENSP00000508736.1:p.Met477=
ENST00000687112.1:n.2295_2297delinsATG (POMGNT1)
ENST00000687149.1:c.1429_1431delinsATG (POMGNT1) ENSP00000509745.1:p.Met477=
ENST00000687197.1:c.*369_*371delinsATG (POMGNT1) ENSP00000510749.1:n.*369_*371delinsATG
ENST00000687235.1:n.1991_1993delinsATG (POMGNT1)
ENST00000687613.1:n.2179_2181delinsATG (POMGNT1)
ENST00000687683.1:c.1429_1431delinsATG (POMGNT1) ENSP00000508522.1:p.Met477=
ENST00000688032.1:n.1991_1993delinsATG (POMGNT1)
ENST00000688596.1:n.2080_2082delinsATG (POMGNT1)
ENST00000688608.1:c.1330_1332delinsATG (POMGNT1) ENSP00000508890.1:p.Met444=
ENST00000688919.1:n.2625_2627delinsATG (POMGNT1)
ENST00000689031.1:n.1991_1993delinsATG (POMGNT1)
ENST00000689717.1:n.1601_1603delinsATG (POMGNT1)
ENST00000689756.1:c.*1061_*1063delinsATG (POMGNT1) ENSP00000509023.1:n.*1061_*1063delinsATG
ENST00000690377.1:n.1776_1778delinsATG (POMGNT1)
ENST00000690678.1:c.1429_1431delinsATG (POMGNT1) ENSP00000508703.1:p.Met477=
ENST00000691209.1:c.*369_*371delinsATG (POMGNT1) ENSP00000510112.1:n.*369_*371delinsATG
ENST00000691243.1:c.1429_1431delinsATG (POMGNT1) ENSP00000510654.1:p.Met477=
ENST00000692169.1:n.1578_1580delinsATG (POMGNT1)
ENST00000692202.1:n.2004_2006delinsATG (POMGNT1)
ENST00000692322.1:c.*1281_*1283delinsATG (POMGNT1) ENSP00000509017.1:n.*1281_*1283delinsATG
ENST00000692369.1:c.1429_1431delinsATG (POMGNT1) ENSP00000508453.1:p.Met477=
ENST00000692599.1:n.1991_1993delinsATG (POMGNT1)
ENST00000692635.1:c.*369_*371delinsATG (POMGNT1) ENSP00000508425.1:n.*369_*371delinsATG
ENST00000693168.1:n.1690_1692delinsATG (POMGNT1)
ENST00000693218.1:c.1429_1431delinsATG (POMGNT1) ENSP00000510577.1:p.Met477=
ENST00000693223.1:n.2377_2379delinsATG (POMGNT1)
ENST00000693365.1:n.4063_4065delinsATG (POMGNT1)
ENST00000371984.8:c.1429_1431delinsATG (POMGNT1) MANE Select ENSP00000361052.3:p.Met477=
ENST00000371984.7:c.1429_1431delinsATG (POMGNT1) ENSP00000361052.3:p.Met477=
ENST00000371992.1:c.1429_1431delinsATG (POMGNT1) ENSP00000361060.1:p.Met477=
ENST00000396420.7:c.*1098_*1100delinsATG (POMGNT1) ENSP00000379698.3:n.*1098_*1100delinsATG
ENST00000463030.1:n.50_52delinsATG (POMGNT1)
ENST00000485714.1:n.815_817delinsATG (POMGNT1)
NM_001243766.1:c.1429_1431delinsATG (POMGNT1) NP_001230695.1:p.Met477=
NM_001290129.1:c.1363_1365delinsATG (POMGNT1) NP_001277058.1:p.Met455=
NM_001290130.1:c.1000_1002delinsATG (POMGNT1) NP_001277059.1:p.Met334=
NM_017739.3:c.1429_1431delinsATG (POMGNT1) NP_060209.3:p.Met477=
XM_005271010.1:c.1429_1431delinsATG (POMGNT1) XP_005271067.1:p.Met477=
XM_006710755.1:c.1429_1431delinsATG (POMGNT1) XP_006710818.1:p.Met477=
XM_006710756.1:c.1429_1431delinsATG (POMGNT1) XP_006710819.1:p.Met477=
XM_011540460.1:c.679-3996_679-3994delinsCAT (TSPAN1) XP_011538762.1:n.679-3996_679-3994delinsCAT
XM_011540461.1:c.634-3996_634-3994delinsCAT (TSPAN1) XP_011538763.1:n.634-3996_634-3994delinsCAT
XM_011541759.1:c.1363_1365delinsATG (POMGNT1) XP_011540061.1:p.Met455=
XM_011541760.1:c.1363_1365delinsATG (POMGNT1) XP_011540062.1:p.Met455=
XM_011541761.1:c.337_339delinsATG (POMGNT1) XP_011540063.1:p.Met113=
XR_946706.1:n.1589_1591delinsATG (POMGNT1)
XM_011540460.3:c.679-3996_679-3994delinsCAT (TSPAN1) XP_011538762.1:n.679-3996_679-3994delinsCAT
XM_011541760.3:c.1363_1365delinsATG (POMGNT1) XP_011540062.1:p.Met455=
XM_017001690.1:c.1429_1431delinsATG (POMGNT1) XP_016857179.1:p.Met477=
NM_001243766.2:c.1429_1431delinsATG (POMGNT1) NP_001230695.2:p.Met477=
NM_001290129.2:c.1363_1365delinsATG (POMGNT1) NP_001277058.2:p.Met455=
NM_001290130.2:c.1000_1002delinsATG (POMGNT1) NP_001277059.2:p.Met334=
NM_017739.4:c.1429_1431delinsATG (POMGNT1) MANE Select NP_060209.4:p.Met477=