Canonical Allele Identifier: CA2474081362

Gene: POMGNT1 TSPAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190397_46190398delinsCT , CM000663.2:g.46190397_46190398delinsCT	GRCh38
NC_000001.10:g.46656069_46656070delinsCT , CM000663.1:g.46656069_46656070delinsCT	GRCh37
NC_000001.9:g.46428656_46428657delinsCT	NCBI36
NG_009205.2:g.34908_34909delinsAG
NG_009205.3:g.34908_34909delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1649+75_1649+76delinsAG (POMGNT1)	ENSP00000379698.4:n.1649+75_1649+76delinsAG
ENST00000477114.2:n.2286_2287delinsAG (POMGNT1)
ENST00000497439.6:n.1821+75_1821+76delinsAG (POMGNT1)
ENST00000684817.1:n.2009+75_2009+76delinsAG (POMGNT1)
ENST00000684898.1:n.2211+75_2211+76delinsAG (POMGNT1)
ENST00000685230.1:c.*959+75_*959+76delinsAG (POMGNT1)	ENSP00000510305.1:n.*959+75_*959+76delinsAG
ENST00000685275.1:n.2196+75_2196+76delinsAG (POMGNT1)
ENST00000685444.1:c.1550+75_1550+76delinsAG (POMGNT1)	ENSP00000510762.1:n.1550+75_1550+76delinsAG
ENST00000685704.1:n.2315+75_2315+76delinsAG (POMGNT1)
ENST00000685775.1:n.4766_4767delinsAG (POMGNT1)
ENST00000685833.1:n.4042+75_4042+76delinsAG (POMGNT1)
ENST00000686252.1:n.2723+75_2723+76delinsAG (POMGNT1)
ENST00000686379.1:c.*773+75_*773+76delinsAG (POMGNT1)	ENSP00000508913.1:n.*773+75_*773+76delinsAG
ENST00000686724.1:n.3336+75_3336+76delinsAG (POMGNT1)
ENST00000686737.1:c.1649+75_1649+76delinsAG (POMGNT1)	ENSP00000508736.1:n.1649+75_1649+76delinsAG
ENST00000687112.1:n.2515+75_2515+76delinsAG (POMGNT1)
ENST00000687149.1:c.1688+75_1688+76delinsAG (POMGNT1)	ENSP00000509745.1:n.1688+75_1688+76delinsAG
ENST00000687197.1:c.*589+75_*589+76delinsAG (POMGNT1)	ENSP00000510749.1:n.*589+75_*589+76delinsAG
ENST00000687235.1:n.3726+75_3726+76delinsAG (POMGNT1)
ENST00000687613.1:n.2290-409_2290-408delinsAG (POMGNT1)
ENST00000687683.1:c.1649+75_1649+76delinsAG (POMGNT1)	ENSP00000508522.1:n.1649+75_1649+76delinsAG
ENST00000688032.1:n.2186+75_2186+76delinsAG (POMGNT1)
ENST00000688596.1:n.2300+75_2300+76delinsAG (POMGNT1)
ENST00000688608.1:c.1550+75_1550+76delinsAG (POMGNT1)	ENSP00000508890.1:n.1550+75_1550+76delinsAG
ENST00000688919.1:n.3122_3123delinsAG (POMGNT1)
ENST00000689031.1:n.2102-409_2102-408delinsAG (POMGNT1)
ENST00000689717.1:n.2098_2099delinsAG (POMGNT1)
ENST00000689756.1:c.*1281+75_*1281+76delinsAG (POMGNT1)	ENSP00000509023.1:n.*1281+75_*1281+76delinsAG
ENST00000690377.1:n.1996+75_1996+76delinsAG (POMGNT1)
ENST00000690678.1:c.1649+75_1649+76delinsAG (POMGNT1)	ENSP00000508703.1:n.1649+75_1649+76delinsAG
ENST00000691209.1:c.*589+75_*589+76delinsAG (POMGNT1)	ENSP00000510112.1:n.*589+75_*589+76delinsAG
ENST00000691243.1:c.*40+75_*40+76delinsAG (POMGNT1)	ENSP00000510654.1:n.*40+75_*40+76delinsAG
ENST00000692169.1:n.3388_3389delinsAG (POMGNT1)
ENST00000692202.1:n.2224+75_2224+76delinsAG (POMGNT1)
ENST00000692322.1:c.*1436+75_*1436+76delinsAG (POMGNT1)	ENSP00000509017.1:n.*1436+75_*1436+76delinsAG
ENST00000692369.1:c.1649+75_1649+76delinsAG (POMGNT1)	ENSP00000508453.1:n.1649+75_1649+76delinsAG
ENST00000692599.1:n.3524+75_3524+76delinsAG (POMGNT1)
ENST00000692635.1:c.*524+75_*524+76delinsAG (POMGNT1)	ENSP00000508425.1:n.*524+75_*524+76delinsAG
ENST00000693168.1:n.3425+75_3425+76delinsAG (POMGNT1)
ENST00000693218.1:c.*210+75_*210+76delinsAG (POMGNT1)	ENSP00000510577.1:n.*210+75_*210+76delinsAG
ENST00000693223.1:n.2597+75_2597+76delinsAG (POMGNT1)
ENST00000693365.1:n.5873_5874delinsAG (POMGNT1)
ENST00000371984.8:c.1649+75_1649+76delinsAG (POMGNT1) MANE Select	ENSP00000361052.3:n.1649+75_1649+76delinsAG
ENST00000371984.7:c.1649+75_1649+76delinsAG (POMGNT1)	ENSP00000361052.3:n.1649+75_1649+76delinsAG
ENST00000371992.1:c.1649+75_1649+76delinsAG (POMGNT1)	ENSP00000361060.1:n.1649+75_1649+76delinsAG
ENST00000396420.7:c.*1318+75_*1318+76delinsAG (POMGNT1)	ENSP00000379698.3:n.*1318+75_*1318+76delinsAG
ENST00000480972.1:n.298+75_298+76delinsAG (POMGNT1)
ENST00000485714.1:n.2625_2626delinsAG (POMGNT1)
NM_001243766.1:c.1649+75_1649+76delinsAG (POMGNT1)	NP_001230695.1:n.1649+75_1649+76delinsAG
NM_001290129.1:c.1583+75_1583+76delinsAG (POMGNT1)	NP_001277058.1:n.1583+75_1583+76delinsAG
NM_001290130.1:c.1220+75_1220+76delinsAG (POMGNT1)	NP_001277059.1:n.1220+75_1220+76delinsAG
NM_017739.3:c.1649+75_1649+76delinsAG (POMGNT1)	NP_060209.3:n.1649+75_1649+76delinsAG
XM_005271010.1:c.1649+75_1649+76delinsAG (POMGNT1)	XP_005271067.1:n.1649+75_1649+76delinsAG
XM_006710755.1:c.1649+75_1649+76delinsAG (POMGNT1)	XP_006710818.1:n.1649+75_1649+76delinsAG
XM_006710756.1:c.1649+75_1649+76delinsAG (POMGNT1)	XP_006710819.1:n.1649+75_1649+76delinsAG
XM_011540460.1:c.678+5089_678+5090delinsCT (TSPAN1)	XP_011538762.1:n.678+5089_678+5090delinsCT
XM_011540461.1:c.633+5089_633+5090delinsCT (TSPAN1)	XP_011538763.1:n.633+5089_633+5090delinsCT
XM_011541759.1:c.1583+75_1583+76delinsAG (POMGNT1)	XP_011540061.1:n.1583+75_1583+76delinsAG
XM_011541760.1:c.1583+75_1583+76delinsAG (POMGNT1)	XP_011540062.1:n.1583+75_1583+76delinsAG
XM_011541761.1:c.557+75_557+76delinsAG (POMGNT1)	XP_011540063.1:n.557+75_557+76delinsAG
XM_011540460.3:c.678+5089_678+5090delinsCT (TSPAN1)	XP_011538762.1:n.678+5089_678+5090delinsCT
XM_011541760.3:c.1583+75_1583+76delinsAG (POMGNT1)	XP_011540062.1:n.1583+75_1583+76delinsAG
XM_017001690.1:c.1649+75_1649+76delinsAG (POMGNT1)	XP_016857179.1:n.1649+75_1649+76delinsAG
NM_001243766.2:c.1649+75_1649+76delinsAG (POMGNT1)	NP_001230695.2:n.1649+75_1649+76delinsAG
NM_001290129.2:c.1583+75_1583+76delinsAG (POMGNT1)	NP_001277058.2:n.1583+75_1583+76delinsAG
NM_001290130.2:c.1220+75_1220+76delinsAG (POMGNT1)	NP_001277059.2:n.1220+75_1220+76delinsAG
NM_017739.4:c.1649+75_1649+76delinsAG (POMGNT1) MANE Select	NP_060209.4:n.1649+75_1649+76delinsAG