Canonical Allele Identifier: CA2743457111
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46194775_46194776insAACA , CM000663.2:g.46194775_46194776insAACA GRCh38
NC_000001.10:g.46660447_46660448insAACA , CM000663.1:g.46660447_46660448insAACA GRCh37
NC_000001.9:g.46433034_46433035insAACA NCBI36
NG_009205.2:g.30530_30531insTGTT
NG_009205.3:g.30530_30531insTGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.652+68_652+69insTGTT (POMGNT1) ENSP00000379698.4:n.652+68_652+69insTGTT
ENST00000477114.2:n.824+68_824+69insTGTT (POMGNT1)
ENST00000497439.6:n.824+68_824+69insTGTT (POMGNT1)
ENST00000684817.1:n.888_889insTGTT (POMGNT1)
ENST00000684898.1:n.824+68_824+69insTGTT (POMGNT1)
ENST00000685230.1:c.535-125_535-124insTGTT (POMGNT1) ENSP00000510305.1:n.535-125_535-124insTGTT
ENST00000685275.1:n.809+68_809+69insTGTT (POMGNT1)
ENST00000685444.1:c.652+68_652+69insTGTT (POMGNT1) ENSP00000510762.1:n.652+68_652+69insTGTT
ENST00000685704.1:n.824+68_824+69insTGTT (POMGNT1)
ENST00000685775.1:n.1665_1666insTGTT (POMGNT1)
ENST00000685833.1:n.865_866insTGTT (POMGNT1)
ENST00000686252.1:n.1726+68_1726+69insTGTT (POMGNT1)
ENST00000686379.1:c.652+68_652+69insTGTT (POMGNT1) ENSP00000508913.1:n.652+68_652+69insTGTT
ENST00000686724.1:n.824+68_824+69insTGTT (POMGNT1)
ENST00000686737.1:c.652+68_652+69insTGTT (POMGNT1) ENSP00000508736.1:n.652+68_652+69insTGTT
ENST00000687112.1:n.824+68_824+69insTGTT (POMGNT1)
ENST00000687149.1:c.652+68_652+69insTGTT (POMGNT1) ENSP00000509745.1:n.652+68_652+69insTGTT
ENST00000687197.1:c.652+68_652+69insTGTT (POMGNT1) ENSP00000510749.1:n.652+68_652+69insTGTT
ENST00000687235.1:n.824+68_824+69insTGTT (POMGNT1)
ENST00000687613.1:n.888_889insTGTT (POMGNT1)
ENST00000687683.1:c.652+68_652+69insTGTT (POMGNT1) ENSP00000508522.1:n.652+68_652+69insTGTT
ENST00000688032.1:n.824+68_824+69insTGTT (POMGNT1)
ENST00000688596.1:n.824+68_824+69insTGTT (POMGNT1)
ENST00000688608.1:c.652+68_652+69insTGTT (POMGNT1) ENSP00000508890.1:n.652+68_652+69insTGTT
ENST00000688919.1:n.1458+68_1458+69insTGTT (POMGNT1)
ENST00000689031.1:n.824+68_824+69insTGTT (POMGNT1)
ENST00000689717.1:n.824+68_824+69insTGTT (POMGNT1)
ENST00000689756.1:c.*284+68_*284+69insTGTT (POMGNT1) ENSP00000509023.1:n.*284+68_*284+69insTGTT
ENST00000690377.1:n.824+68_824+69insTGTT (POMGNT1)
ENST00000690678.1:c.652+68_652+69insTGTT (POMGNT1) ENSP00000508703.1:n.652+68_652+69insTGTT
ENST00000691209.1:c.652+68_652+69insTGTT (POMGNT1) ENSP00000510112.1:n.652+68_652+69insTGTT
ENST00000691243.1:c.652+68_652+69insTGTT (POMGNT1) ENSP00000510654.1:n.652+68_652+69insTGTT
ENST00000692169.1:n.824+68_824+69insTGTT (POMGNT1)
ENST00000692202.1:n.888_889insTGTT (POMGNT1)
ENST00000692322.1:c.*504+68_*504+69insTGTT (POMGNT1) ENSP00000509017.1:n.*504+68_*504+69insTGTT
ENST00000692369.1:c.652+68_652+69insTGTT (POMGNT1) ENSP00000508453.1:n.652+68_652+69insTGTT
ENST00000692599.1:n.824+68_824+69insTGTT (POMGNT1)
ENST00000692635.1:c.652+68_652+69insTGTT (POMGNT1) ENSP00000508425.1:n.652+68_652+69insTGTT
ENST00000693168.1:n.824+68_824+69insTGTT (POMGNT1)
ENST00000693218.1:c.652+68_652+69insTGTT (POMGNT1) ENSP00000510577.1:n.652+68_652+69insTGTT
ENST00000693223.1:n.1296+68_1296+69insTGTT (POMGNT1)
ENST00000693365.1:n.2468_2469insTGTT (POMGNT1)
ENST00000371984.8:c.652+68_652+69insTGTT (POMGNT1) MANE Select ENSP00000361052.3:n.652+68_652+69insTGTT
ENST00000371984.7:c.652+68_652+69insTGTT (POMGNT1) ENSP00000361052.3:n.652+68_652+69insTGTT
ENST00000371992.1:c.652+68_652+69insTGTT (POMGNT1) ENSP00000361060.1:n.652+68_652+69insTGTT
ENST00000396420.7:c.535-125_535-124insTGTT (POMGNT1) ENSP00000379698.3:n.535-125_535-124insTGTT
ENST00000497439.5:n.776+68_776+69insTGTT (POMGNT1)
NM_001243766.1:c.652+68_652+69insTGTT (POMGNT1) NP_001230695.1:n.652+68_652+69insTGTT
NM_001290129.1:c.586+68_586+69insTGTT (POMGNT1) NP_001277058.1:n.586+68_586+69insTGTT
NM_001290130.1:c.223+68_223+69insTGTT (POMGNT1) NP_001277059.1:n.223+68_223+69insTGTT
NM_017739.3:c.652+68_652+69insTGTT (POMGNT1) NP_060209.3:n.652+68_652+69insTGTT
XM_005271010.1:c.652+68_652+69insTGTT (POMGNT1) XP_005271067.1:n.652+68_652+69insTGTT
XM_006710755.1:c.652+68_652+69insTGTT (POMGNT1) XP_006710818.1:n.652+68_652+69insTGTT
XM_006710756.1:c.652+68_652+69insTGTT (POMGNT1) XP_006710819.1:n.652+68_652+69insTGTT
XM_011540460.1:c.679-1427_679-1426insAACA (TSPAN1) XP_011538762.1:n.679-1427_679-1426insAACA
XM_011540461.1:c.634-1427_634-1426insAACA (TSPAN1) XP_011538763.1:n.634-1427_634-1426insAACA
XM_011541759.1:c.586+68_586+69insTGTT (POMGNT1) XP_011540061.1:n.586+68_586+69insTGTT
XM_011541760.1:c.586+68_586+69insTGTT (POMGNT1) XP_011540062.1:n.586+68_586+69insTGTT
XR_946706.1:n.811+68_811+69insTGTT (POMGNT1)
XM_011540460.3:c.679-1427_679-1426insAACA (TSPAN1) XP_011538762.1:n.679-1427_679-1426insAACA
XM_011541760.3:c.586+68_586+69insTGTT (POMGNT1) XP_011540062.1:n.586+68_586+69insTGTT
XM_017001690.1:c.652+68_652+69insTGTT (POMGNT1) XP_016857179.1:n.652+68_652+69insTGTT
NM_001243766.2:c.652+68_652+69insTGTT (POMGNT1) NP_001230695.2:n.652+68_652+69insTGTT
NM_001290129.2:c.586+68_586+69insTGTT (POMGNT1) NP_001277058.2:n.586+68_586+69insTGTT
NM_001290130.2:c.223+68_223+69insTGTT (POMGNT1) NP_001277059.2:n.223+68_223+69insTGTT
NM_017739.4:c.652+68_652+69insTGTT (POMGNT1) MANE Select NP_060209.4:n.652+68_652+69insTGTT
Search 100 bp 5'
Search 100 bp 3'