Canonical Allele Identifier: CA2474081365

Gene: POMGNT1 TSPAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190398_46190399delinsTG , CM000663.2:g.46190398_46190399delinsTG	GRCh38
NC_000001.10:g.46656070_46656071delinsTG , CM000663.1:g.46656070_46656071delinsTG	GRCh37
NC_000001.9:g.46428657_46428658delinsTG	NCBI36
NG_009205.2:g.34907_34908delinsCA
NG_009205.3:g.34907_34908delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1649+74_1649+75delinsCA (POMGNT1)	ENSP00000379698.4:n.1649+74_1649+75delinsCA
ENST00000477114.2:n.2285_2286delinsCA (POMGNT1)
ENST00000497439.6:n.1821+74_1821+75delinsCA (POMGNT1)
ENST00000684817.1:n.2009+74_2009+75delinsCA (POMGNT1)
ENST00000684898.1:n.2211+74_2211+75delinsCA (POMGNT1)
ENST00000685230.1:c.*959+74_*959+75delinsCA (POMGNT1)	ENSP00000510305.1:n.*959+74_*959+75delinsCA
ENST00000685275.1:n.2196+74_2196+75delinsCA (POMGNT1)
ENST00000685444.1:c.1550+74_1550+75delinsCA (POMGNT1)	ENSP00000510762.1:n.1550+74_1550+75delinsCA
ENST00000685704.1:n.2315+74_2315+75delinsCA (POMGNT1)
ENST00000685775.1:n.4765_4766delinsCA (POMGNT1)
ENST00000685833.1:n.4042+74_4042+75delinsCA (POMGNT1)
ENST00000686252.1:n.2723+74_2723+75delinsCA (POMGNT1)
ENST00000686379.1:c.*773+74_*773+75delinsCA (POMGNT1)	ENSP00000508913.1:n.*773+74_*773+75delinsCA
ENST00000686724.1:n.3336+74_3336+75delinsCA (POMGNT1)
ENST00000686737.1:c.1649+74_1649+75delinsCA (POMGNT1)	ENSP00000508736.1:n.1649+74_1649+75delinsCA
ENST00000687112.1:n.2515+74_2515+75delinsCA (POMGNT1)
ENST00000687149.1:c.1688+74_1688+75delinsCA (POMGNT1)	ENSP00000509745.1:n.1688+74_1688+75delinsCA
ENST00000687197.1:c.*589+74_*589+75delinsCA (POMGNT1)	ENSP00000510749.1:n.*589+74_*589+75delinsCA
ENST00000687235.1:n.3726+74_3726+75delinsCA (POMGNT1)
ENST00000687613.1:n.2290-410_2290-409delinsCA (POMGNT1)
ENST00000687683.1:c.1649+74_1649+75delinsCA (POMGNT1)	ENSP00000508522.1:n.1649+74_1649+75delinsCA
ENST00000688032.1:n.2186+74_2186+75delinsCA (POMGNT1)
ENST00000688596.1:n.2300+74_2300+75delinsCA (POMGNT1)
ENST00000688608.1:c.1550+74_1550+75delinsCA (POMGNT1)	ENSP00000508890.1:n.1550+74_1550+75delinsCA
ENST00000688919.1:n.3121_3122delinsCA (POMGNT1)
ENST00000689031.1:n.2102-410_2102-409delinsCA (POMGNT1)
ENST00000689717.1:n.2097_2098delinsCA (POMGNT1)
ENST00000689756.1:c.*1281+74_*1281+75delinsCA (POMGNT1)	ENSP00000509023.1:n.*1281+74_*1281+75delinsCA
ENST00000690377.1:n.1996+74_1996+75delinsCA (POMGNT1)
ENST00000690678.1:c.1649+74_1649+75delinsCA (POMGNT1)	ENSP00000508703.1:n.1649+74_1649+75delinsCA
ENST00000691209.1:c.*589+74_*589+75delinsCA (POMGNT1)	ENSP00000510112.1:n.*589+74_*589+75delinsCA
ENST00000691243.1:c.*40+74_*40+75delinsCA (POMGNT1)	ENSP00000510654.1:n.*40+74_*40+75delinsCA
ENST00000692169.1:n.3387_3388delinsCA (POMGNT1)
ENST00000692202.1:n.2224+74_2224+75delinsCA (POMGNT1)
ENST00000692322.1:c.*1436+74_*1436+75delinsCA (POMGNT1)	ENSP00000509017.1:n.*1436+74_*1436+75delinsCA
ENST00000692369.1:c.1649+74_1649+75delinsCA (POMGNT1)	ENSP00000508453.1:n.1649+74_1649+75delinsCA
ENST00000692599.1:n.3524+74_3524+75delinsCA (POMGNT1)
ENST00000692635.1:c.*524+74_*524+75delinsCA (POMGNT1)	ENSP00000508425.1:n.*524+74_*524+75delinsCA
ENST00000693168.1:n.3425+74_3425+75delinsCA (POMGNT1)
ENST00000693218.1:c.*210+74_*210+75delinsCA (POMGNT1)	ENSP00000510577.1:n.*210+74_*210+75delinsCA
ENST00000693223.1:n.2597+74_2597+75delinsCA (POMGNT1)
ENST00000693365.1:n.5872_5873delinsCA (POMGNT1)
ENST00000371984.8:c.1649+74_1649+75delinsCA (POMGNT1) MANE Select	ENSP00000361052.3:n.1649+74_1649+75delinsCA
ENST00000371984.7:c.1649+74_1649+75delinsCA (POMGNT1)	ENSP00000361052.3:n.1649+74_1649+75delinsCA
ENST00000371992.1:c.1649+74_1649+75delinsCA (POMGNT1)	ENSP00000361060.1:n.1649+74_1649+75delinsCA
ENST00000396420.7:c.*1318+74_*1318+75delinsCA (POMGNT1)	ENSP00000379698.3:n.*1318+74_*1318+75delinsCA
ENST00000480972.1:n.298+74_298+75delinsCA (POMGNT1)
ENST00000485714.1:n.2624_2625delinsCA (POMGNT1)
NM_001243766.1:c.1649+74_1649+75delinsCA (POMGNT1)	NP_001230695.1:n.1649+74_1649+75delinsCA
NM_001290129.1:c.1583+74_1583+75delinsCA (POMGNT1)	NP_001277058.1:n.1583+74_1583+75delinsCA
NM_001290130.1:c.1220+74_1220+75delinsCA (POMGNT1)	NP_001277059.1:n.1220+74_1220+75delinsCA
NM_017739.3:c.1649+74_1649+75delinsCA (POMGNT1)	NP_060209.3:n.1649+74_1649+75delinsCA
XM_005271010.1:c.1649+74_1649+75delinsCA (POMGNT1)	XP_005271067.1:n.1649+74_1649+75delinsCA
XM_006710755.1:c.1649+74_1649+75delinsCA (POMGNT1)	XP_006710818.1:n.1649+74_1649+75delinsCA
XM_006710756.1:c.1649+74_1649+75delinsCA (POMGNT1)	XP_006710819.1:n.1649+74_1649+75delinsCA
XM_011540460.1:c.678+5090_678+5091delinsTG (TSPAN1)	XP_011538762.1:n.678+5090_678+5091delinsTG
XM_011540461.1:c.633+5090_633+5091delinsTG (TSPAN1)	XP_011538763.1:n.633+5090_633+5091delinsTG
XM_011541759.1:c.1583+74_1583+75delinsCA (POMGNT1)	XP_011540061.1:n.1583+74_1583+75delinsCA
XM_011541760.1:c.1583+74_1583+75delinsCA (POMGNT1)	XP_011540062.1:n.1583+74_1583+75delinsCA
XM_011541761.1:c.557+74_557+75delinsCA (POMGNT1)	XP_011540063.1:n.557+74_557+75delinsCA
XM_011540460.3:c.678+5090_678+5091delinsTG (TSPAN1)	XP_011538762.1:n.678+5090_678+5091delinsTG
XM_011541760.3:c.1583+74_1583+75delinsCA (POMGNT1)	XP_011540062.1:n.1583+74_1583+75delinsCA
XM_017001690.1:c.1649+74_1649+75delinsCA (POMGNT1)	XP_016857179.1:n.1649+74_1649+75delinsCA
NM_001243766.2:c.1649+74_1649+75delinsCA (POMGNT1)	NP_001230695.2:n.1649+74_1649+75delinsCA
NM_001290129.2:c.1583+74_1583+75delinsCA (POMGNT1)	NP_001277058.2:n.1583+74_1583+75delinsCA
NM_001290130.2:c.1220+74_1220+75delinsCA (POMGNT1)	NP_001277059.2:n.1220+74_1220+75delinsCA
NM_017739.4:c.1649+74_1649+75delinsCA (POMGNT1) MANE Select	NP_060209.4:n.1649+74_1649+75delinsCA