Canonical Allele Identifier: CA2645441115

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v4: 1-46192172-C-CATTAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192172_46192173insATTAAAAAA , CM000663.2:g.46192172_46192173insATTAAAAAA	GRCh38
NC_000001.10:g.46657844_46657845insATTAAAAAA , CM000663.1:g.46657844_46657845insATTAAAAAA	GRCh37
NC_000001.9:g.46430431_46430432insATTAAAAAA	NCBI36
NG_009205.2:g.33133_33134insTTTTTTAAT
NG_009205.3:g.33133_33134insTTTTTTAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1464_1465insTTTTTTAAT (POMGNT1)	ENSP00000379698.4:p.Arg488_Glu489insPhePheAsn
ENST00000477114.2:n.2026_2027insTTTTTTAAT (POMGNT1)
ENST00000497439.6:n.1636_1637insTTTTTTAAT (POMGNT1)
ENST00000684817.1:n.1824_1825insTTTTTTAAT (POMGNT1)
ENST00000684898.1:n.2026_2027insTTTTTTAAT (POMGNT1)
ENST00000685230.1:c.*774_*775insTTTTTTAAT (POMGNT1)	ENSP00000510305.1:n.*774_*775insTTTTTTAAT
ENST00000685275.1:n.2011_2012insTTTTTTAAT (POMGNT1)
ENST00000685444.1:c.1365_1366insTTTTTTAAT (POMGNT1)	ENSP00000510762.1:p.Arg455_Glu456insPhePheAsn
ENST00000685704.1:n.2026_2027insTTTTTTAAT (POMGNT1)
ENST00000685775.1:n.2991_2992insTTTTTTAAT (POMGNT1)
ENST00000685833.1:n.2342_2343insTTTTTTAAT (POMGNT1)
ENST00000686252.1:n.2538_2539insTTTTTTAAT (POMGNT1)
ENST00000686379.1:c.*588_*589insTTTTTTAAT (POMGNT1)	ENSP00000508913.1:n.*588_*589insTTTTTTAAT
ENST00000686724.1:n.1636_1637insTTTTTTAAT (POMGNT1)
ENST00000686737.1:c.1464_1465insTTTTTTAAT (POMGNT1)	ENSP00000508736.1:p.Arg488_Glu489insPhePheAsn
ENST00000687112.1:n.2330_2331insTTTTTTAAT (POMGNT1)
ENST00000687149.1:c.1464_1465insTTTTTTAAT (POMGNT1)	ENSP00000509745.1:p.Arg488_Glu489insPhePheAsn
ENST00000687197.1:c.*404_*405insTTTTTTAAT (POMGNT1)	ENSP00000510749.1:n.*404_*405insTTTTTTAAT
ENST00000687235.1:n.2026_2027insTTTTTTAAT (POMGNT1)
ENST00000687613.1:n.2214_2215insTTTTTTAAT (POMGNT1)
ENST00000687683.1:c.1464_1465insTTTTTTAAT (POMGNT1)	ENSP00000508522.1:p.Arg488_Glu489insPhePheAsn
ENST00000688032.1:n.2026_2027insTTTTTTAAT (POMGNT1)
ENST00000688596.1:n.2115_2116insTTTTTTAAT (POMGNT1)
ENST00000688608.1:c.1365_1366insTTTTTTAAT (POMGNT1)	ENSP00000508890.1:p.Arg455_Glu456insPhePheAsn
ENST00000688919.1:n.2660_2661insTTTTTTAAT (POMGNT1)
ENST00000689031.1:n.2026_2027insTTTTTTAAT (POMGNT1)
ENST00000689717.1:n.1636_1637insTTTTTTAAT (POMGNT1)
ENST00000689756.1:c.*1096_*1097insTTTTTTAAT (POMGNT1)	ENSP00000509023.1:n.*1096_*1097insTTTTTTAAT
ENST00000690377.1:n.1811_1812insTTTTTTAAT (POMGNT1)
ENST00000690678.1:c.1464_1465insTTTTTTAAT (POMGNT1)	ENSP00000508703.1:p.Arg488_Glu489insPhePheAsn
ENST00000691209.1:c.*404_*405insTTTTTTAAT (POMGNT1)	ENSP00000510112.1:n.*404_*405insTTTTTTAAT
ENST00000691243.1:c.1464_1465insTTTTTTAAT (POMGNT1)	ENSP00000510654.1:p.Arg488_Glu489insPhePheAsn
ENST00000692169.1:n.1613_1614insTTTTTTAAT (POMGNT1)
ENST00000692202.1:n.2039_2040insTTTTTTAAT (POMGNT1)
ENST00000692322.1:c.*1316_*1317insTTTTTTAAT (POMGNT1)	ENSP00000509017.1:n.*1316_*1317insTTTTTTAAT
ENST00000692369.1:c.1464_1465insTTTTTTAAT (POMGNT1)	ENSP00000508453.1:p.Arg488_Glu489insPhePheAsn
ENST00000692599.1:n.2026_2027insTTTTTTAAT (POMGNT1)
ENST00000692635.1:c.*404_*405insTTTTTTAAT (POMGNT1)	ENSP00000508425.1:n.*404_*405insTTTTTTAAT
ENST00000693168.1:n.1725_1726insTTTTTTAAT (POMGNT1)
ENST00000693218.1:c.1464_1465insTTTTTTAAT (POMGNT1)	ENSP00000510577.1:p.Arg488_Glu489insPhePheAsn
ENST00000693223.1:n.2412_2413insTTTTTTAAT (POMGNT1)
ENST00000693365.1:n.4098_4099insTTTTTTAAT (POMGNT1)
ENST00000371984.8:c.1464_1465insTTTTTTAAT (POMGNT1) MANE Select	ENSP00000361052.3:p.Arg488_Glu489insPhePheAsn
ENST00000371984.7:c.1464_1465insTTTTTTAAT (POMGNT1)	ENSP00000361052.3:p.Arg488_Glu489insPhePheAsn
ENST00000371992.1:c.1464_1465insTTTTTTAAT (POMGNT1)	ENSP00000361060.1:p.Arg488_Glu489insPhePheAsn
ENST00000396420.7:c.*1133_*1134insTTTTTTAAT (POMGNT1)	ENSP00000379698.3:n.*1133_*1134insTTTTTTAAT
ENST00000463030.1:n.85_86insTTTTTTAAT (POMGNT1)
ENST00000485714.1:n.850_851insTTTTTTAAT (POMGNT1)
NM_001243766.1:c.1464_1465insTTTTTTAAT (POMGNT1)	NP_001230695.1:p.Arg488_Glu489insPhePheAsn
NM_001290129.1:c.1398_1399insTTTTTTAAT (POMGNT1)	NP_001277058.1:p.Arg466_Glu467insPhePheAsn
NM_001290130.1:c.1035_1036insTTTTTTAAT (POMGNT1)	NP_001277059.1:p.Arg345_Glu346insPhePheAsn
NM_017739.3:c.1464_1465insTTTTTTAAT (POMGNT1)	NP_060209.3:p.Arg488_Glu489insPhePheAsn
XM_005271010.1:c.1464_1465insTTTTTTAAT (POMGNT1)	XP_005271067.1:p.Arg488_Glu489insPhePheAsn
XM_006710755.1:c.1464_1465insTTTTTTAAT (POMGNT1)	XP_006710818.1:p.Arg488_Glu489insPhePheAsn
XM_006710756.1:c.1464_1465insTTTTTTAAT (POMGNT1)	XP_006710819.1:p.Arg488_Glu489insPhePheAsn
XM_011540460.1:c.679-4030_679-4029insATTAAAAAA (TSPAN1)	XP_011538762.1:n.679-4030_679-4029insATTAAAAAA
XM_011540461.1:c.634-4030_634-4029insATTAAAAAA (TSPAN1)	XP_011538763.1:n.634-4030_634-4029insATTAAAAAA
XM_011541759.1:c.1398_1399insTTTTTTAAT (POMGNT1)	XP_011540061.1:p.Arg466_Glu467insPhePheAsn
XM_011541760.1:c.1398_1399insTTTTTTAAT (POMGNT1)	XP_011540062.1:p.Arg466_Glu467insPhePheAsn
XM_011541761.1:c.372_373insTTTTTTAAT (POMGNT1)	XP_011540063.1:p.Arg124_Glu125insPhePheAsn
XR_946706.1:n.1624_1625insTTTTTTAAT (POMGNT1)
XM_011540460.3:c.679-4030_679-4029insATTAAAAAA (TSPAN1)	XP_011538762.1:n.679-4030_679-4029insATTAAAAAA
XM_011541760.3:c.1398_1399insTTTTTTAAT (POMGNT1)	XP_011540062.1:p.Arg466_Glu467insPhePheAsn
XM_017001690.1:c.1464_1465insTTTTTTAAT (POMGNT1)	XP_016857179.1:p.Arg488_Glu489insPhePheAsn
NM_001243766.2:c.1464_1465insTTTTTTAAT (POMGNT1)	NP_001230695.2:p.Arg488_Glu489insPhePheAsn
NM_001290129.2:c.1398_1399insTTTTTTAAT (POMGNT1)	NP_001277058.2:p.Arg466_Glu467insPhePheAsn
NM_001290130.2:c.1035_1036insTTTTTTAAT (POMGNT1)	NP_001277059.2:p.Arg345_Glu346insPhePheAsn
NM_017739.4:c.1464_1465insTTTTTTAAT (POMGNT1) MANE Select	NP_060209.4:p.Arg488_Glu489insPhePheAsn