Canonical Allele Identifier: CA116543
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46189920del , CM000663.2:g.46189920del GRCh38
NC_000001.10:g.46655592del , CM000663.1:g.46655592del GRCh37
NC_000001.9:g.46428179del NCBI36
NG_009205.2:g.35386del
NG_009205.3:g.35386del

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1719del (POMGNT1) ENSP00000379698.4:p.His573GlnfsTer?
ENST00000497439.6:n.1891del (POMGNT1)
ENST00000684817.1:n.2079del (POMGNT1)
ENST00000684898.1:n.2281del (POMGNT1)
ENST00000685230.1:c.*1029del (POMGNT1) ENSP00000510305.1:n.*1029del
ENST00000685275.1:n.2266del (POMGNT1)
ENST00000685444.1:c.1620del (POMGNT1) ENSP00000510762.1:p.His540GlnfsTer?
ENST00000685704.1:n.2385del (POMGNT1)
ENST00000685833.1:n.4112del (POMGNT1)
ENST00000686252.1:n.2793del (POMGNT1)
ENST00000686379.1:c.*843del (POMGNT1) ENSP00000508913.1:n.*843del
ENST00000686724.1:n.3406del (POMGNT1)
ENST00000686737.1:c.1719del (POMGNT1) ENSP00000508736.1:p.His573GlnfsTer?
ENST00000687112.1:n.2585del (POMGNT1)
ENST00000687149.1:c.1758del (POMGNT1) ENSP00000509745.1:p.His586GlnfsTer?
ENST00000687197.1:c.*659del (POMGNT1) ENSP00000510749.1:n.*659del
ENST00000687235.1:n.3796del (POMGNT1)
ENST00000687613.1:n.2359del (POMGNT1)
ENST00000687683.1:c.1719del (POMGNT1) ENSP00000508522.1:p.His573GlnfsTer?
ENST00000688032.1:n.2256del (POMGNT1)
ENST00000688596.1:n.2370del (POMGNT1)
ENST00000688608.1:c.1620del (POMGNT1) ENSP00000508890.1:p.His540GlnfsTer?
ENST00000689031.1:n.2171del (POMGNT1)
ENST00000689756.1:c.*1351del (POMGNT1) ENSP00000509023.1:n.*1351del
ENST00000690377.1:n.2066del (POMGNT1)
ENST00000690678.1:c.1719del (POMGNT1) ENSP00000508703.1:p.His573GlnfsTer?
ENST00000691209.1:c.*659del (POMGNT1) ENSP00000510112.1:n.*659del
ENST00000691243.1:c.*110del (POMGNT1) ENSP00000510654.1:n.*110del
ENST00000692202.1:n.2294del (POMGNT1)
ENST00000692322.1:c.*1506del (POMGNT1) ENSP00000509017.1:n.*1506del
ENST00000692369.1:c.1719del (POMGNT1) ENSP00000508453.1:p.His573GlnfsTer?
ENST00000692599.1:n.3594del (POMGNT1)
ENST00000692635.1:c.*594del (POMGNT1) ENSP00000508425.1:n.*594del
ENST00000693168.1:n.3495del (POMGNT1)
ENST00000693218.1:c.*280del (POMGNT1) ENSP00000510577.1:n.*280del
ENST00000693223.1:n.2667del (POMGNT1)
ENST00000371984.8:c.1719del (POMGNT1) MANE Select ENSP00000361052.3:p.His573GlnfsTer?
ENST00000371984.7:c.1719del (POMGNT1) ENSP00000361052.3:p.His573GlnfsTer?
ENST00000371992.1:c.1719del (POMGNT1) ENSP00000361060.1:p.His573GlnfsTer?
ENST00000396420.7:c.*1388del (POMGNT1) ENSP00000379698.3:n.*1388del
ENST00000480972.1:n.368del (POMGNT1)
NM_001243766.1:c.1719del (POMGNT1) NP_001230695.1:p.His573GlnfsTer?
NM_001290129.1:c.1653del (POMGNT1) NP_001277058.1:p.His551GlnfsTer?
NM_001290130.1:c.1290del (POMGNT1) NP_001277059.1:p.His430GlnfsTer?
NM_017739.3:c.1719del (POMGNT1) NP_060209.3:p.His573GlnfsTer?
XM_005271010.1:c.1719del (POMGNT1) XP_005271067.1:p.His573GlnfsTer?
XM_006710755.1:c.1719del (POMGNT1) XP_006710818.1:p.His573GlnfsTer?
XM_006710756.1:c.1719del (POMGNT1) XP_006710819.1:p.His573GlnfsTer?
XM_011540460.1:c.678+4612del (TSPAN1) XP_011538762.1:n.678+4612del
XM_011540461.1:c.633+4612del (TSPAN1) XP_011538763.1:n.633+4612del
XM_011541759.1:c.1653del (POMGNT1) XP_011540061.1:p.His551GlnfsTer?
XM_011541760.1:c.1653del (POMGNT1) XP_011540062.1:p.His551GlnfsTer?
XM_011541761.1:c.627del (POMGNT1) XP_011540063.1:p.His209GlnfsTer?
XM_011540460.3:c.678+4612del (TSPAN1) XP_011538762.1:n.678+4612del
XM_011541760.3:c.1653del (POMGNT1) XP_011540062.1:p.His551GlnfsTer?
XM_017001690.1:c.1719del (POMGNT1) XP_016857179.1:p.His573GlnfsTer?
NM_001243766.2:c.1719del (POMGNT1) NP_001230695.2:p.His573GlnfsTer?
NM_001290129.2:c.1653del (POMGNT1) NP_001277058.2:p.His551GlnfsTer?
NM_001290130.2:c.1290del (POMGNT1) NP_001277059.2:p.His430GlnfsTer?
NM_017739.4:c.1719del (POMGNT1) MANE Select NP_060209.4:p.His573GlnfsTer?