Canonical Allele Identifier: CA2580062934

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 1725260
• ClinVar RCV Id: RCV002308319

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192417_46192418del , CM000663.2:g.46192417_46192418del	GRCh38
NC_000001.10:g.46658089_46658090del , CM000663.1:g.46658089_46658090del	GRCh37
NC_000001.9:g.46430676_46430677del	NCBI36
NG_009205.2:g.32889_32890del
NG_009205.3:g.32889_32890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1304_1305del (POMGNT1)	ENSP00000379698.4:p.Glu435GlyfsTer28
ENST00000477114.2:n.1866_1867del (POMGNT1)
ENST00000497439.6:n.1476_1477del (POMGNT1)
ENST00000684817.1:n.1664_1665del (POMGNT1)
ENST00000684898.1:n.1866_1867del (POMGNT1)
ENST00000685230.1:c.*614_*615del (POMGNT1)	ENSP00000510305.1:n.*614_*615del
ENST00000685275.1:n.1851_1852del (POMGNT1)
ENST00000685444.1:c.1205_1206del (POMGNT1)	ENSP00000510762.1:p.Glu402GlyfsTer28
ENST00000685704.1:n.1866_1867del (POMGNT1)
ENST00000685775.1:n.2831_2832del (POMGNT1)
ENST00000685833.1:n.2182_2183del (POMGNT1)
ENST00000686252.1:n.2378_2379del (POMGNT1)
ENST00000686379.1:c.*428_*429del (POMGNT1)	ENSP00000508913.1:n.*428_*429del
ENST00000686724.1:n.1476_1477del (POMGNT1)
ENST00000686737.1:c.1304_1305del (POMGNT1)	ENSP00000508736.1:p.Glu435GlyfsTer28
ENST00000687112.1:n.2170_2171del (POMGNT1)
ENST00000687149.1:c.1304_1305del (POMGNT1)	ENSP00000509745.1:p.Glu435GlyfsTer28
ENST00000687197.1:c.*244_*245del (POMGNT1)	ENSP00000510749.1:n.*244_*245del
ENST00000687235.1:n.1866_1867del (POMGNT1)
ENST00000687613.1:n.2054_2055del (POMGNT1)
ENST00000687683.1:c.1304_1305del (POMGNT1)	ENSP00000508522.1:p.Glu435GlyfsTer28
ENST00000688032.1:n.1866_1867del (POMGNT1)
ENST00000688596.1:n.1955_1956del (POMGNT1)
ENST00000688608.1:c.1205_1206del (POMGNT1)	ENSP00000508890.1:p.Glu402GlyfsTer28
ENST00000688919.1:n.2500_2501del (POMGNT1)
ENST00000689031.1:n.1866_1867del (POMGNT1)
ENST00000689717.1:n.1476_1477del (POMGNT1)
ENST00000689756.1:c.*936_*937del (POMGNT1)	ENSP00000509023.1:n.*936_*937del
ENST00000690377.1:n.1651_1652del (POMGNT1)
ENST00000690678.1:c.1304_1305del (POMGNT1)	ENSP00000508703.1:p.Glu435GlyfsTer28
ENST00000691209.1:c.*244_*245del (POMGNT1)	ENSP00000510112.1:n.*244_*245del
ENST00000691243.1:c.1304_1305del (POMGNT1)	ENSP00000510654.1:p.Glu435GlyfsTer28
ENST00000692169.1:n.1453_1454del (POMGNT1)
ENST00000692202.1:n.1879_1880del (POMGNT1)
ENST00000692322.1:c.*1156_*1157del (POMGNT1)	ENSP00000509017.1:n.*1156_*1157del
ENST00000692369.1:c.1304_1305del (POMGNT1)	ENSP00000508453.1:p.Glu435GlyfsTer28
ENST00000692599.1:n.1866_1867del (POMGNT1)
ENST00000692635.1:c.*244_*245del (POMGNT1)	ENSP00000508425.1:n.*244_*245del
ENST00000693168.1:n.1565_1566del (POMGNT1)
ENST00000693218.1:c.1304_1305del (POMGNT1)	ENSP00000510577.1:p.Glu435GlyfsTer28
ENST00000693223.1:n.2252_2253del (POMGNT1)
ENST00000693365.1:n.3938_3939del (POMGNT1)
ENST00000371984.8:c.1304_1305del (POMGNT1) MANE Select	ENSP00000361052.3:p.Glu435GlyfsTer28
ENST00000371984.7:c.1304_1305del (POMGNT1)	ENSP00000361052.3:p.Glu435GlyfsTer28
ENST00000371992.1:c.1304_1305del (POMGNT1)	ENSP00000361060.1:p.Glu435GlyfsTer28
ENST00000396420.7:c.*973_*974del (POMGNT1)	ENSP00000379698.3:n.*973_*974del
ENST00000485714.1:n.690_691del (POMGNT1)
NM_001243766.1:c.1304_1305del (POMGNT1)	NP_001230695.1:p.Glu435GlyfsTer28
NM_001290129.1:c.1238_1239del (POMGNT1)	NP_001277058.1:p.Glu413GlyfsTer28
NM_001290130.1:c.875_876del (POMGNT1)	NP_001277059.1:p.Glu292GlyfsTer28
NM_017739.3:c.1304_1305del (POMGNT1)	NP_060209.3:p.Glu435GlyfsTer28
XM_005271010.1:c.1304_1305del (POMGNT1)	XP_005271067.1:p.Glu435GlyfsTer28
XM_006710755.1:c.1304_1305del (POMGNT1)	XP_006710818.1:p.Glu435GlyfsTer28
XM_006710756.1:c.1304_1305del (POMGNT1)	XP_006710819.1:p.Glu435GlyfsTer28
XM_011540460.1:c.679-3785_679-3784del (TSPAN1)	XP_011538762.1:n.679-3785_679-3784del
XM_011540461.1:c.634-3785_634-3784del (TSPAN1)	XP_011538763.1:n.634-3785_634-3784del
XM_011541759.1:c.1238_1239del (POMGNT1)	XP_011540061.1:p.Glu413GlyfsTer28
XM_011541760.1:c.1238_1239del (POMGNT1)	XP_011540062.1:p.Glu413GlyfsTer28
XM_011541761.1:c.212_213del (POMGNT1)	XP_011540063.1:p.Glu71GlyfsTer28
XR_946706.1:n.1464_1465del (POMGNT1)
XM_011540460.3:c.679-3785_679-3784del (TSPAN1)	XP_011538762.1:n.679-3785_679-3784del
XM_011541760.3:c.1238_1239del (POMGNT1)	XP_011540062.1:p.Glu413GlyfsTer28
XM_017001690.1:c.1304_1305del (POMGNT1)	XP_016857179.1:p.Glu435GlyfsTer28
NM_001243766.2:c.1304_1305del (POMGNT1)	NP_001230695.2:p.Glu435GlyfsTer28
NM_001290129.2:c.1238_1239del (POMGNT1)	NP_001277058.2:p.Glu413GlyfsTer28
NM_001290130.2:c.875_876del (POMGNT1)	NP_001277059.2:p.Glu292GlyfsTer28
NM_017739.4:c.1304_1305del (POMGNT1) MANE Select	NP_060209.4:p.Glu435GlyfsTer28