Canonical Allele Identifier: CA2474081252

Gene: POMGNT1 TSPAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190118_46190121delinsAGAT , CM000663.2:g.46190118_46190121delinsAGAT	GRCh38
NC_000001.10:g.46655790_46655793delinsAGAT , CM000663.1:g.46655790_46655793delinsAGAT	GRCh37
NC_000001.9:g.46428377_46428380delinsAGAT	NCBI36
NG_009205.2:g.35185_35188delinsATCT
NG_009205.3:g.35185_35188delinsATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1650-132_1650-129delinsATCT (POMGNT1)	ENSP00000379698.4:n.1650-132_1650-129delinsATCT
ENST00000497439.6:n.1822-132_1822-129delinsATCT (POMGNT1)
ENST00000684817.1:n.2010-132_2010-129delinsATCT (POMGNT1)
ENST00000684898.1:n.2212-132_2212-129delinsATCT (POMGNT1)
ENST00000685230.1:c.*960-132_*960-129delinsATCT (POMGNT1)	ENSP00000510305.1:n.*960-132_*960-129delinsATCT
ENST00000685275.1:n.2197-132_2197-129delinsATCT (POMGNT1)
ENST00000685444.1:c.1551-132_1551-129delinsATCT (POMGNT1)	ENSP00000510762.1:n.1551-132_1551-129delinsATCT
ENST00000685704.1:n.2316-132_2316-129delinsATCT (POMGNT1)
ENST00000685833.1:n.4043-132_4043-129delinsATCT (POMGNT1)
ENST00000686252.1:n.2724-132_2724-129delinsATCT (POMGNT1)
ENST00000686379.1:c.*774-132_*774-129delinsATCT (POMGNT1)	ENSP00000508913.1:n.*774-132_*774-129delinsATCT
ENST00000686724.1:n.3337-132_3337-129delinsATCT (POMGNT1)
ENST00000686737.1:c.1650-132_1650-129delinsATCT (POMGNT1)	ENSP00000508736.1:n.1650-132_1650-129delinsATCT
ENST00000687112.1:n.2516-132_2516-129delinsATCT (POMGNT1)
ENST00000687149.1:c.1689-132_1689-129delinsATCT (POMGNT1)	ENSP00000509745.1:n.1689-132_1689-129delinsATCT
ENST00000687197.1:c.*590-132_*590-129delinsATCT (POMGNT1)	ENSP00000510749.1:n.*590-132_*590-129delinsATCT
ENST00000687235.1:n.3727-132_3727-129delinsATCT (POMGNT1)
ENST00000687613.1:n.2290-132_2290-129delinsATCT (POMGNT1)
ENST00000687683.1:c.1650-132_1650-129delinsATCT (POMGNT1)	ENSP00000508522.1:n.1650-132_1650-129delinsATCT
ENST00000688032.1:n.2187-132_2187-129delinsATCT (POMGNT1)
ENST00000688596.1:n.2301-132_2301-129delinsATCT (POMGNT1)
ENST00000688608.1:c.1551-132_1551-129delinsATCT (POMGNT1)	ENSP00000508890.1:n.1551-132_1551-129delinsATCT
ENST00000689031.1:n.2102-132_2102-129delinsATCT (POMGNT1)
ENST00000689756.1:c.*1282-132_*1282-129delinsATCT (POMGNT1)	ENSP00000509023.1:n.*1282-132_*1282-129delinsATCT
ENST00000690377.1:n.1997-132_1997-129delinsATCT (POMGNT1)
ENST00000690678.1:c.1650-132_1650-129delinsATCT (POMGNT1)	ENSP00000508703.1:n.1650-132_1650-129delinsATCT
ENST00000691209.1:c.*590-132_*590-129delinsATCT (POMGNT1)	ENSP00000510112.1:n.*590-132_*590-129delinsATCT
ENST00000691243.1:c.*41-132_*41-129delinsATCT (POMGNT1)	ENSP00000510654.1:n.*41-132_*41-129delinsATCT
ENST00000692202.1:n.2225-132_2225-129delinsATCT (POMGNT1)
ENST00000692322.1:c.*1437-132_*1437-129delinsATCT (POMGNT1)	ENSP00000509017.1:n.*1437-132_*1437-129delinsATCT
ENST00000692369.1:c.1650-132_1650-129delinsATCT (POMGNT1)	ENSP00000508453.1:n.1650-132_1650-129delinsATCT
ENST00000692599.1:n.3525-132_3525-129delinsATCT (POMGNT1)
ENST00000692635.1:c.*525-132_*525-129delinsATCT (POMGNT1)	ENSP00000508425.1:n.*525-132_*525-129delinsATCT
ENST00000693168.1:n.3426-132_3426-129delinsATCT (POMGNT1)
ENST00000693218.1:c.*211-132_*211-129delinsATCT (POMGNT1)	ENSP00000510577.1:n.*211-132_*211-129delinsATCT
ENST00000693223.1:n.2598-132_2598-129delinsATCT (POMGNT1)
ENST00000371984.8:c.1650-132_1650-129delinsATCT (POMGNT1) MANE Select	ENSP00000361052.3:n.1650-132_1650-129delinsATCT
ENST00000371984.7:c.1650-132_1650-129delinsATCT (POMGNT1)	ENSP00000361052.3:n.1650-132_1650-129delinsATCT
ENST00000371992.1:c.1650-132_1650-129delinsATCT (POMGNT1)	ENSP00000361060.1:n.1650-132_1650-129delinsATCT
ENST00000396420.7:c.*1319-132_*1319-129delinsATCT (POMGNT1)	ENSP00000379698.3:n.*1319-132_*1319-129delinsATCT
ENST00000480972.1:n.299-132_299-129delinsATCT (POMGNT1)
ENST00000485714.1:n.2902_2905delinsATCT (POMGNT1)
NM_001243766.1:c.1650-132_1650-129delinsATCT (POMGNT1)	NP_001230695.1:n.1650-132_1650-129delinsATCT
NM_001290129.1:c.1584-132_1584-129delinsATCT (POMGNT1)	NP_001277058.1:n.1584-132_1584-129delinsATCT
NM_001290130.1:c.1221-132_1221-129delinsATCT (POMGNT1)	NP_001277059.1:n.1221-132_1221-129delinsATCT
NM_017739.3:c.1650-132_1650-129delinsATCT (POMGNT1)	NP_060209.3:n.1650-132_1650-129delinsATCT
XM_005271010.1:c.1650-132_1650-129delinsATCT (POMGNT1)	XP_005271067.1:n.1650-132_1650-129delinsATCT
XM_006710755.1:c.1650-132_1650-129delinsATCT (POMGNT1)	XP_006710818.1:n.1650-132_1650-129delinsATCT
XM_006710756.1:c.1650-132_1650-129delinsATCT (POMGNT1)	XP_006710819.1:n.1650-132_1650-129delinsATCT
XM_011540460.1:c.678+4810_678+4813delinsAGAT (TSPAN1)	XP_011538762.1:n.678+4810_678+4813delinsAGAT
XM_011540461.1:c.633+4810_633+4813delinsAGAT (TSPAN1)	XP_011538763.1:n.633+4810_633+4813delinsAGAT
XM_011541759.1:c.1584-132_1584-129delinsATCT (POMGNT1)	XP_011540061.1:n.1584-132_1584-129delinsATCT
XM_011541760.1:c.1584-132_1584-129delinsATCT (POMGNT1)	XP_011540062.1:n.1584-132_1584-129delinsATCT
XM_011541761.1:c.558-132_558-129delinsATCT (POMGNT1)	XP_011540063.1:n.558-132_558-129delinsATCT
XM_011540460.3:c.678+4810_678+4813delinsAGAT (TSPAN1)	XP_011538762.1:n.678+4810_678+4813delinsAGAT
XM_011541760.3:c.1584-132_1584-129delinsATCT (POMGNT1)	XP_011540062.1:n.1584-132_1584-129delinsATCT
XM_017001690.1:c.1650-132_1650-129delinsATCT (POMGNT1)	XP_016857179.1:n.1650-132_1650-129delinsATCT
NM_001243766.2:c.1650-132_1650-129delinsATCT (POMGNT1)	NP_001230695.2:n.1650-132_1650-129delinsATCT
NM_001290129.2:c.1584-132_1584-129delinsATCT (POMGNT1)	NP_001277058.2:n.1584-132_1584-129delinsATCT
NM_001290130.2:c.1221-132_1221-129delinsATCT (POMGNT1)	NP_001277059.2:n.1221-132_1221-129delinsATCT
NM_017739.4:c.1650-132_1650-129delinsATCT (POMGNT1) MANE Select	NP_060209.4:n.1650-132_1650-129delinsATCT