Canonical Allele Identifier: CA2645439808

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v4: 1-46190431-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190434_46190435del , CM000663.2:g.46190434_46190435del	GRCh38
NC_000001.10:g.46656106_46656107del , CM000663.1:g.46656106_46656107del	GRCh37
NC_000001.9:g.46428693_46428694del	NCBI36
NG_009205.2:g.34873_34874del
NG_009205.3:g.34873_34874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1649+40_1649+41del (POMGNT1)	ENSP00000379698.4:n.1649+40_1649+41del
ENST00000477114.2:n.2251_2252del (POMGNT1)
ENST00000497439.6:n.1821+40_1821+41del (POMGNT1)
ENST00000684817.1:n.2009+40_2009+41del (POMGNT1)
ENST00000684898.1:n.2211+40_2211+41del (POMGNT1)
ENST00000685230.1:c.*959+40_*959+41del (POMGNT1)	ENSP00000510305.1:n.*959+40_*959+41del
ENST00000685275.1:n.2196+40_2196+41del (POMGNT1)
ENST00000685444.1:c.1550+40_1550+41del (POMGNT1)	ENSP00000510762.1:n.1550+40_1550+41del
ENST00000685704.1:n.2315+40_2315+41del (POMGNT1)
ENST00000685775.1:n.4731_4732del (POMGNT1)
ENST00000685833.1:n.4042+40_4042+41del (POMGNT1)
ENST00000686252.1:n.2723+40_2723+41del (POMGNT1)
ENST00000686379.1:c.*773+40_*773+41del (POMGNT1)	ENSP00000508913.1:n.*773+40_*773+41del
ENST00000686724.1:n.3336+40_3336+41del (POMGNT1)
ENST00000686737.1:c.1649+40_1649+41del (POMGNT1)	ENSP00000508736.1:n.1649+40_1649+41del
ENST00000687112.1:n.2515+40_2515+41del (POMGNT1)
ENST00000687149.1:c.1688+40_1688+41del (POMGNT1)	ENSP00000509745.1:n.1688+40_1688+41del
ENST00000687197.1:c.*589+40_*589+41del (POMGNT1)	ENSP00000510749.1:n.*589+40_*589+41del
ENST00000687235.1:n.3726+40_3726+41del (POMGNT1)
ENST00000687613.1:n.2290-444_2290-443del (POMGNT1)
ENST00000687683.1:c.1649+40_1649+41del (POMGNT1)	ENSP00000508522.1:n.1649+40_1649+41del
ENST00000688032.1:n.2186+40_2186+41del (POMGNT1)
ENST00000688596.1:n.2300+40_2300+41del (POMGNT1)
ENST00000688608.1:c.1550+40_1550+41del (POMGNT1)	ENSP00000508890.1:n.1550+40_1550+41del
ENST00000688919.1:n.3087_3088del (POMGNT1)
ENST00000689031.1:n.2102-444_2102-443del (POMGNT1)
ENST00000689717.1:n.2063_2064del (POMGNT1)
ENST00000689756.1:c.*1281+40_*1281+41del (POMGNT1)	ENSP00000509023.1:n.*1281+40_*1281+41del
ENST00000690377.1:n.1996+40_1996+41del (POMGNT1)
ENST00000690678.1:c.1649+40_1649+41del (POMGNT1)	ENSP00000508703.1:n.1649+40_1649+41del
ENST00000691209.1:c.*589+40_*589+41del (POMGNT1)	ENSP00000510112.1:n.*589+40_*589+41del
ENST00000691243.1:c.*40+40_*40+41del (POMGNT1)	ENSP00000510654.1:n.*40+40_*40+41del
ENST00000692169.1:n.3353_3354del (POMGNT1)
ENST00000692202.1:n.2224+40_2224+41del (POMGNT1)
ENST00000692322.1:c.*1436+40_*1436+41del (POMGNT1)	ENSP00000509017.1:n.*1436+40_*1436+41del
ENST00000692369.1:c.1649+40_1649+41del (POMGNT1)	ENSP00000508453.1:n.1649+40_1649+41del
ENST00000692599.1:n.3524+40_3524+41del (POMGNT1)
ENST00000692635.1:c.*524+40_*524+41del (POMGNT1)	ENSP00000508425.1:n.*524+40_*524+41del
ENST00000693168.1:n.3425+40_3425+41del (POMGNT1)
ENST00000693218.1:c.*210+40_*210+41del (POMGNT1)	ENSP00000510577.1:n.*210+40_*210+41del
ENST00000693223.1:n.2597+40_2597+41del (POMGNT1)
ENST00000693365.1:n.5838_5839del (POMGNT1)
ENST00000371984.8:c.1649+40_1649+41del (POMGNT1) MANE Select	ENSP00000361052.3:n.1649+40_1649+41del
ENST00000371984.7:c.1649+40_1649+41del (POMGNT1)	ENSP00000361052.3:n.1649+40_1649+41del
ENST00000371992.1:c.1649+40_1649+41del (POMGNT1)	ENSP00000361060.1:n.1649+40_1649+41del
ENST00000396420.7:c.*1318+40_*1318+41del (POMGNT1)	ENSP00000379698.3:n.*1318+40_*1318+41del
ENST00000480972.1:n.298+40_298+41del (POMGNT1)
ENST00000485714.1:n.2590_2591del (POMGNT1)
NM_001243766.1:c.1649+40_1649+41del (POMGNT1)	NP_001230695.1:n.1649+40_1649+41del
NM_001290129.1:c.1583+40_1583+41del (POMGNT1)	NP_001277058.1:n.1583+40_1583+41del
NM_001290130.1:c.1220+40_1220+41del (POMGNT1)	NP_001277059.1:n.1220+40_1220+41del
NM_017739.3:c.1649+40_1649+41del (POMGNT1)	NP_060209.3:n.1649+40_1649+41del
XM_005271010.1:c.1649+40_1649+41del (POMGNT1)	XP_005271067.1:n.1649+40_1649+41del
XM_006710755.1:c.1649+40_1649+41del (POMGNT1)	XP_006710818.1:n.1649+40_1649+41del
XM_006710756.1:c.1649+40_1649+41del (POMGNT1)	XP_006710819.1:n.1649+40_1649+41del
XM_011540460.1:c.678+5126_678+5127del (TSPAN1)	XP_011538762.1:n.678+5126_678+5127del
XM_011540461.1:c.633+5126_633+5127del (TSPAN1)	XP_011538763.1:n.633+5126_633+5127del
XM_011541759.1:c.1583+40_1583+41del (POMGNT1)	XP_011540061.1:n.1583+40_1583+41del
XM_011541760.1:c.1583+40_1583+41del (POMGNT1)	XP_011540062.1:n.1583+40_1583+41del
XM_011541761.1:c.557+40_557+41del (POMGNT1)	XP_011540063.1:n.557+40_557+41del
XM_011540460.3:c.678+5126_678+5127del (TSPAN1)	XP_011538762.1:n.678+5126_678+5127del
XM_011541760.3:c.1583+40_1583+41del (POMGNT1)	XP_011540062.1:n.1583+40_1583+41del
XM_017001690.1:c.1649+40_1649+41del (POMGNT1)	XP_016857179.1:n.1649+40_1649+41del
NM_001243766.2:c.1649+40_1649+41del (POMGNT1)	NP_001230695.2:n.1649+40_1649+41del
NM_001290129.2:c.1583+40_1583+41del (POMGNT1)	NP_001277058.2:n.1583+40_1583+41del
NM_001290130.2:c.1220+40_1220+41del (POMGNT1)	NP_001277059.2:n.1220+40_1220+41del
NM_017739.4:c.1649+40_1649+41del (POMGNT1) MANE Select	NP_060209.4:n.1649+40_1649+41del