Canonical Allele Identifier: CA2645441110

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v4: 1-46192166-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192166_46192167insC , CM000663.2:g.46192166_46192167insC	GRCh38
NC_000001.10:g.46657838_46657839insC , CM000663.1:g.46657838_46657839insC	GRCh37
NC_000001.9:g.46430425_46430426insC	NCBI36
NG_009205.2:g.33139_33140insG
NG_009205.3:g.33139_33140insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1470_1471insG (POMGNT1)	ENSP00000379698.4:p.Ile491AspfsTer4
ENST00000477114.2:n.2032_2033insG (POMGNT1)
ENST00000497439.6:n.1642_1643insG (POMGNT1)
ENST00000684817.1:n.1830_1831insG (POMGNT1)
ENST00000684898.1:n.2032_2033insG (POMGNT1)
ENST00000685230.1:c.*780_*781insG (POMGNT1)	ENSP00000510305.1:n.*780_*781insG
ENST00000685275.1:n.2017_2018insG (POMGNT1)
ENST00000685444.1:c.1371_1372insG (POMGNT1)	ENSP00000510762.1:p.Ile458AspfsTer4
ENST00000685704.1:n.2032_2033insG (POMGNT1)
ENST00000685775.1:n.2997_2998insG (POMGNT1)
ENST00000685833.1:n.2348_2349insG (POMGNT1)
ENST00000686252.1:n.2544_2545insG (POMGNT1)
ENST00000686379.1:c.*594_*595insG (POMGNT1)	ENSP00000508913.1:n.*594_*595insG
ENST00000686724.1:n.1642_1643insG (POMGNT1)
ENST00000686737.1:c.1470_1471insG (POMGNT1)	ENSP00000508736.1:p.Ile491AspfsTer4
ENST00000687112.1:n.2336_2337insG (POMGNT1)
ENST00000687149.1:c.1470_1471insG (POMGNT1)	ENSP00000509745.1:p.Ile491AspfsTer4
ENST00000687197.1:c.*410_*411insG (POMGNT1)	ENSP00000510749.1:n.*410_*411insG
ENST00000687235.1:n.2032_2033insG (POMGNT1)
ENST00000687613.1:n.2220_2221insG (POMGNT1)
ENST00000687683.1:c.1470_1471insG (POMGNT1)	ENSP00000508522.1:p.Ile491AspfsTer4
ENST00000688032.1:n.2032_2033insG (POMGNT1)
ENST00000688596.1:n.2121_2122insG (POMGNT1)
ENST00000688608.1:c.1371_1372insG (POMGNT1)	ENSP00000508890.1:p.Ile458AspfsTer4
ENST00000688919.1:n.2666_2667insG (POMGNT1)
ENST00000689031.1:n.2032_2033insG (POMGNT1)
ENST00000689717.1:n.1642_1643insG (POMGNT1)
ENST00000689756.1:c.*1102_*1103insG (POMGNT1)	ENSP00000509023.1:n.*1102_*1103insG
ENST00000690377.1:n.1817_1818insG (POMGNT1)
ENST00000690678.1:c.1470_1471insG (POMGNT1)	ENSP00000508703.1:p.Ile491AspfsTer4
ENST00000691209.1:c.*410_*411insG (POMGNT1)	ENSP00000510112.1:n.*410_*411insG
ENST00000691243.1:c.1470_1471insG (POMGNT1)	ENSP00000510654.1:p.Ile491AspfsTer4
ENST00000692169.1:n.1619_1620insG (POMGNT1)
ENST00000692202.1:n.2045_2046insG (POMGNT1)
ENST00000692322.1:c.*1322_*1323insG (POMGNT1)	ENSP00000509017.1:n.*1322_*1323insG
ENST00000692369.1:c.1470_1471insG (POMGNT1)	ENSP00000508453.1:p.Ile491AspfsTer4
ENST00000692599.1:n.2032_2033insG (POMGNT1)
ENST00000692635.1:c.*410_*411insG (POMGNT1)	ENSP00000508425.1:n.*410_*411insG
ENST00000693168.1:n.1731_1732insG (POMGNT1)
ENST00000693218.1:c.1470_1471insG (POMGNT1)	ENSP00000510577.1:p.Ile491AspfsTer4
ENST00000693223.1:n.2418_2419insG (POMGNT1)
ENST00000693365.1:n.4104_4105insG (POMGNT1)
ENST00000371984.8:c.1470_1471insG (POMGNT1) MANE Select	ENSP00000361052.3:p.Ile491AspfsTer4
ENST00000371984.7:c.1470_1471insG (POMGNT1)	ENSP00000361052.3:p.Ile491AspfsTer4
ENST00000371992.1:c.1470_1471insG (POMGNT1)	ENSP00000361060.1:p.Ile491AspfsTer4
ENST00000396420.7:c.*1139_*1140insG (POMGNT1)	ENSP00000379698.3:n.*1139_*1140insG
ENST00000463030.1:n.91_92insG (POMGNT1)
ENST00000485714.1:n.856_857insG (POMGNT1)
NM_001243766.1:c.1470_1471insG (POMGNT1)	NP_001230695.1:p.Ile491AspfsTer4
NM_001290129.1:c.1404_1405insG (POMGNT1)	NP_001277058.1:p.Ile469AspfsTer4
NM_001290130.1:c.1041_1042insG (POMGNT1)	NP_001277059.1:p.Ile348AspfsTer4
NM_017739.3:c.1470_1471insG (POMGNT1)	NP_060209.3:p.Ile491AspfsTer4
XM_005271010.1:c.1470_1471insG (POMGNT1)	XP_005271067.1:p.Ile491AspfsTer4
XM_006710755.1:c.1470_1471insG (POMGNT1)	XP_006710818.1:p.Ile491AspfsTer4
XM_006710756.1:c.1470_1471insG (POMGNT1)	XP_006710819.1:p.Ile491AspfsTer4
XM_011540460.1:c.679-4036_679-4035insC (TSPAN1)	XP_011538762.1:n.679-4036_679-4035insC
XM_011540461.1:c.634-4036_634-4035insC (TSPAN1)	XP_011538763.1:n.634-4036_634-4035insC
XM_011541759.1:c.1404_1405insG (POMGNT1)	XP_011540061.1:p.Ile469AspfsTer4
XM_011541760.1:c.1404_1405insG (POMGNT1)	XP_011540062.1:p.Ile469AspfsTer4
XM_011541761.1:c.378_379insG (POMGNT1)	XP_011540063.1:p.Ile127AspfsTer4
XR_946706.1:n.1630_1631insG (POMGNT1)
XM_011540460.3:c.679-4036_679-4035insC (TSPAN1)	XP_011538762.1:n.679-4036_679-4035insC
XM_011541760.3:c.1404_1405insG (POMGNT1)	XP_011540062.1:p.Ile469AspfsTer4
XM_017001690.1:c.1470_1471insG (POMGNT1)	XP_016857179.1:p.Ile491AspfsTer4
NM_001243766.2:c.1470_1471insG (POMGNT1)	NP_001230695.2:p.Ile491AspfsTer4
NM_001290129.2:c.1404_1405insG (POMGNT1)	NP_001277058.2:p.Ile469AspfsTer4
NM_001290130.2:c.1041_1042insG (POMGNT1)	NP_001277059.2:p.Ile348AspfsTer4
NM_017739.4:c.1470_1471insG (POMGNT1) MANE Select	NP_060209.4:p.Ile491AspfsTer4