Canonical Allele Identifier: CA2580062930

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 1724880
• ClinVar RCV Id: RCV002307939

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192190_46192192delinsT , CM000663.2:g.46192190_46192192delinsT	GRCh38
NC_000001.10:g.46657862_46657864delinsT , CM000663.1:g.46657862_46657864delinsT	GRCh37
NC_000001.9:g.46430449_46430451delinsT	NCBI36
NG_009205.2:g.33114_33116delinsA
NG_009205.3:g.33114_33116delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1445_1447delinsA (POMGNT1)	ENSP00000379698.4:p.Pro482GlnfsTer12
ENST00000477114.2:n.2007_2009delinsA (POMGNT1)
ENST00000497439.6:n.1617_1619delinsA (POMGNT1)
ENST00000684817.1:n.1805_1807delinsA (POMGNT1)
ENST00000684898.1:n.2007_2009delinsA (POMGNT1)
ENST00000685230.1:c.*755_*757delinsA (POMGNT1)	ENSP00000510305.1:n.*755_*757delinsA
ENST00000685275.1:n.1992_1994delinsA (POMGNT1)
ENST00000685444.1:c.1346_1348delinsA (POMGNT1)	ENSP00000510762.1:p.Pro449GlnfsTer12
ENST00000685704.1:n.2007_2009delinsA (POMGNT1)
ENST00000685775.1:n.2972_2974delinsA (POMGNT1)
ENST00000685833.1:n.2323_2325delinsA (POMGNT1)
ENST00000686252.1:n.2519_2521delinsA (POMGNT1)
ENST00000686379.1:c.*569_*571delinsA (POMGNT1)	ENSP00000508913.1:n.*569_*571delinsA
ENST00000686724.1:n.1617_1619delinsA (POMGNT1)
ENST00000686737.1:c.1445_1447delinsA (POMGNT1)	ENSP00000508736.1:p.Pro482GlnfsTer12
ENST00000687112.1:n.2311_2313delinsA (POMGNT1)
ENST00000687149.1:c.1445_1447delinsA (POMGNT1)	ENSP00000509745.1:p.Pro482GlnfsTer12
ENST00000687197.1:c.*385_*387delinsA (POMGNT1)	ENSP00000510749.1:n.*385_*387delinsA
ENST00000687235.1:n.2007_2009delinsA (POMGNT1)
ENST00000687613.1:n.2195_2197delinsA (POMGNT1)
ENST00000687683.1:c.1445_1447delinsA (POMGNT1)	ENSP00000508522.1:p.Pro482GlnfsTer12
ENST00000688032.1:n.2007_2009delinsA (POMGNT1)
ENST00000688596.1:n.2096_2098delinsA (POMGNT1)
ENST00000688608.1:c.1346_1348delinsA (POMGNT1)	ENSP00000508890.1:p.Pro449GlnfsTer12
ENST00000688919.1:n.2641_2643delinsA (POMGNT1)
ENST00000689031.1:n.2007_2009delinsA (POMGNT1)
ENST00000689717.1:n.1617_1619delinsA (POMGNT1)
ENST00000689756.1:c.*1077_*1079delinsA (POMGNT1)	ENSP00000509023.1:n.*1077_*1079delinsA
ENST00000690377.1:n.1792_1794delinsA (POMGNT1)
ENST00000690678.1:c.1445_1447delinsA (POMGNT1)	ENSP00000508703.1:p.Pro482GlnfsTer12
ENST00000691209.1:c.*385_*387delinsA (POMGNT1)	ENSP00000510112.1:n.*385_*387delinsA
ENST00000691243.1:c.1445_1447delinsA (POMGNT1)	ENSP00000510654.1:p.Pro482GlnfsTer12
ENST00000692169.1:n.1594_1596delinsA (POMGNT1)
ENST00000692202.1:n.2020_2022delinsA (POMGNT1)
ENST00000692322.1:c.*1297_*1299delinsA (POMGNT1)	ENSP00000509017.1:n.*1297_*1299delinsA
ENST00000692369.1:c.1445_1447delinsA (POMGNT1)	ENSP00000508453.1:p.Pro482GlnfsTer12
ENST00000692599.1:n.2007_2009delinsA (POMGNT1)
ENST00000692635.1:c.*385_*387delinsA (POMGNT1)	ENSP00000508425.1:n.*385_*387delinsA
ENST00000693168.1:n.1706_1708delinsA (POMGNT1)
ENST00000693218.1:c.1445_1447delinsA (POMGNT1)	ENSP00000510577.1:p.Pro482GlnfsTer12
ENST00000693223.1:n.2393_2395delinsA (POMGNT1)
ENST00000693365.1:n.4079_4081delinsA (POMGNT1)
ENST00000371984.8:c.1445_1447delinsA (POMGNT1) MANE Select	ENSP00000361052.3:p.Pro482GlnfsTer12
ENST00000371984.7:c.1445_1447delinsA (POMGNT1)	ENSP00000361052.3:p.Pro482GlnfsTer12
ENST00000371992.1:c.1445_1447delinsA (POMGNT1)	ENSP00000361060.1:p.Pro482GlnfsTer12
ENST00000396420.7:c.*1114_*1116delinsA (POMGNT1)	ENSP00000379698.3:n.*1114_*1116delinsA
ENST00000463030.1:n.66_68delinsA (POMGNT1)
ENST00000485714.1:n.831_833delinsA (POMGNT1)
NM_001243766.1:c.1445_1447delinsA (POMGNT1)	NP_001230695.1:p.Pro482GlnfsTer12
NM_001290129.1:c.1379_1381delinsA (POMGNT1)	NP_001277058.1:p.Pro460GlnfsTer12
NM_001290130.1:c.1016_1018delinsA (POMGNT1)	NP_001277059.1:p.Pro339GlnfsTer12
NM_017739.3:c.1445_1447delinsA (POMGNT1)	NP_060209.3:p.Pro482GlnfsTer12
XM_005271010.1:c.1445_1447delinsA (POMGNT1)	XP_005271067.1:p.Pro482GlnfsTer12
XM_006710755.1:c.1445_1447delinsA (POMGNT1)	XP_006710818.1:p.Pro482GlnfsTer12
XM_006710756.1:c.1445_1447delinsA (POMGNT1)	XP_006710819.1:p.Pro482GlnfsTer12
XM_011540460.1:c.679-4012_679-4010delinsT (TSPAN1)	XP_011538762.1:n.679-4012_679-4010delinsT
XM_011540461.1:c.634-4012_634-4010delinsT (TSPAN1)	XP_011538763.1:n.634-4012_634-4010delinsT
XM_011541759.1:c.1379_1381delinsA (POMGNT1)	XP_011540061.1:p.Pro460GlnfsTer12
XM_011541760.1:c.1379_1381delinsA (POMGNT1)	XP_011540062.1:p.Pro460GlnfsTer12
XM_011541761.1:c.353_355delinsA (POMGNT1)	XP_011540063.1:p.Pro118GlnfsTer12
XR_946706.1:n.1605_1607delinsA (POMGNT1)
XM_011540460.3:c.679-4012_679-4010delinsT (TSPAN1)	XP_011538762.1:n.679-4012_679-4010delinsT
XM_011541760.3:c.1379_1381delinsA (POMGNT1)	XP_011540062.1:p.Pro460GlnfsTer12
XM_017001690.1:c.1445_1447delinsA (POMGNT1)	XP_016857179.1:p.Pro482GlnfsTer12
NM_001243766.2:c.1445_1447delinsA (POMGNT1)	NP_001230695.2:p.Pro482GlnfsTer12
NM_001290129.2:c.1379_1381delinsA (POMGNT1)	NP_001277058.2:p.Pro460GlnfsTer12
NM_001290130.2:c.1016_1018delinsA (POMGNT1)	NP_001277059.2:p.Pro339GlnfsTer12
NM_017739.4:c.1445_1447delinsA (POMGNT1) MANE Select	NP_060209.4:p.Pro482GlnfsTer12