Canonical Allele Identifier: CA2574356084

Gene: POMGNT1 TSPAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190475del , CM000663.2:g.46190475del	GRCh38
NC_000001.10:g.46656147del , CM000663.1:g.46656147del	GRCh37
NC_000001.9:g.46428734del	NCBI36
NG_009205.2:g.34831del
NG_009205.3:g.34831del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1647del (POMGNT1)	ENSP00000379698.4:p.Ser550ValfsTer?
ENST00000477114.2:n.2209del (POMGNT1)
ENST00000497439.6:n.1819del (POMGNT1)
ENST00000684817.1:n.2007del (POMGNT1)
ENST00000684898.1:n.2209del (POMGNT1)
ENST00000685230.1:c.*957del (POMGNT1)	ENSP00000510305.1:n.*957del
ENST00000685275.1:n.2194del (POMGNT1)
ENST00000685444.1:c.1548del (POMGNT1)	ENSP00000510762.1:p.Ser517ValfsTer?
ENST00000685704.1:n.2313del (POMGNT1)
ENST00000685775.1:n.4689del (POMGNT1)
ENST00000685833.1:n.4040del (POMGNT1)
ENST00000686252.1:n.2721del (POMGNT1)
ENST00000686379.1:c.*771del (POMGNT1)	ENSP00000508913.1:n.*771del
ENST00000686724.1:n.3334del (POMGNT1)
ENST00000686737.1:c.1647del (POMGNT1)	ENSP00000508736.1:p.Ser550ValfsTer?
ENST00000687112.1:n.2513del (POMGNT1)
ENST00000687149.1:c.1686del (POMGNT1)	ENSP00000509745.1:p.Ser563ValfsTer?
ENST00000687197.1:c.*587del (POMGNT1)	ENSP00000510749.1:n.*587del
ENST00000687235.1:n.3724del (POMGNT1)
ENST00000687613.1:n.2290-486del (POMGNT1)
ENST00000687683.1:c.1647del (POMGNT1)	ENSP00000508522.1:p.Ser550ValfsTer?
ENST00000688032.1:n.2184del (POMGNT1)
ENST00000688596.1:n.2298del (POMGNT1)
ENST00000688608.1:c.1548del (POMGNT1)	ENSP00000508890.1:p.Ser517ValfsTer?
ENST00000688919.1:n.3045del (POMGNT1)
ENST00000689031.1:n.2102-486del (POMGNT1)
ENST00000689717.1:n.2021del (POMGNT1)
ENST00000689756.1:c.*1279del (POMGNT1)	ENSP00000509023.1:n.*1279del
ENST00000690377.1:n.1994del (POMGNT1)
ENST00000690678.1:c.1647del (POMGNT1)	ENSP00000508703.1:p.Ser550ValfsTer?
ENST00000691209.1:c.*587del (POMGNT1)	ENSP00000510112.1:n.*587del
ENST00000691243.1:c.*38del (POMGNT1)	ENSP00000510654.1:n.*38del
ENST00000692169.1:n.3311del (POMGNT1)
ENST00000692202.1:n.2222del (POMGNT1)
ENST00000692322.1:c.*1434del (POMGNT1)	ENSP00000509017.1:n.*1434del
ENST00000692369.1:c.1647del (POMGNT1)	ENSP00000508453.1:p.Ser550ValfsTer?
ENST00000692599.1:n.3522del (POMGNT1)
ENST00000692635.1:c.*522del (POMGNT1)	ENSP00000508425.1:n.*522del
ENST00000693168.1:n.3423del (POMGNT1)
ENST00000693218.1:c.*208del (POMGNT1)	ENSP00000510577.1:n.*208del
ENST00000693223.1:n.2595del (POMGNT1)
ENST00000693365.1:n.5796del (POMGNT1)
ENST00000371984.8:c.1647del (POMGNT1) MANE Select	ENSP00000361052.3:p.Ser550ValfsTer?
ENST00000371984.7:c.1647del (POMGNT1)	ENSP00000361052.3:p.Ser550ValfsTer?
ENST00000371992.1:c.1647del (POMGNT1)	ENSP00000361060.1:p.Ser550ValfsTer?
ENST00000396420.7:c.*1316del (POMGNT1)	ENSP00000379698.3:n.*1316del
ENST00000480972.1:n.296del (POMGNT1)
ENST00000485714.1:n.2548del (POMGNT1)
NM_001243766.1:c.1647del (POMGNT1)	NP_001230695.1:p.Ser550ValfsTer?
NM_001290129.1:c.1581del (POMGNT1)	NP_001277058.1:p.Ser528ValfsTer?
NM_001290130.1:c.1218del (POMGNT1)	NP_001277059.1:p.Ser407ValfsTer?
NM_017739.3:c.1647del (POMGNT1)	NP_060209.3:p.Ser550ValfsTer?
XM_005271010.1:c.1647del (POMGNT1)	XP_005271067.1:p.Ser550ValfsTer?
XM_006710755.1:c.1647del (POMGNT1)	XP_006710818.1:p.Ser550ValfsTer?
XM_006710756.1:c.1647del (POMGNT1)	XP_006710819.1:p.Ser550ValfsTer?
XM_011540460.1:c.678+5167del (TSPAN1)	XP_011538762.1:n.678+5167del
XM_011540461.1:c.633+5167del (TSPAN1)	XP_011538763.1:n.633+5167del
XM_011541759.1:c.1581del (POMGNT1)	XP_011540061.1:p.Ser528ValfsTer?
XM_011541760.1:c.1581del (POMGNT1)	XP_011540062.1:p.Ser528ValfsTer?
XM_011541761.1:c.555del (POMGNT1)	XP_011540063.1:p.Ser186ValfsTer?
XM_011540460.3:c.678+5167del (TSPAN1)	XP_011538762.1:n.678+5167del
XM_011541760.3:c.1581del (POMGNT1)	XP_011540062.1:p.Ser528ValfsTer?
XM_017001690.1:c.1647del (POMGNT1)	XP_016857179.1:p.Ser550ValfsTer?
NM_001243766.2:c.1647del (POMGNT1)	NP_001230695.2:p.Ser550ValfsTer?
NM_001290129.2:c.1581del (POMGNT1)	NP_001277058.2:p.Ser528ValfsTer?
NM_001290130.2:c.1218del (POMGNT1)	NP_001277059.2:p.Ser407ValfsTer?
NM_017739.4:c.1647del (POMGNT1) MANE Select	NP_060209.4:p.Ser550ValfsTer?