Canonical Allele Identifier: CA2586964073
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46192183_46192188dup , CM000663.2:g.46192183_46192188dup GRCh38
NC_000001.10:g.46657855_46657860dup , CM000663.1:g.46657855_46657860dup GRCh37
NC_000001.9:g.46430442_46430447dup NCBI36
NG_009205.2:g.33118_33123dup
NG_009205.3:g.33118_33123dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1449_1454dup (POMGNT1) ENSP00000379698.4:p.Arg485_Arg486insGlnArg
ENST00000477114.2:n.2011_2016dup (POMGNT1)
ENST00000497439.6:n.1621_1626dup (POMGNT1)
ENST00000684817.1:n.1809_1814dup (POMGNT1)
ENST00000684898.1:n.2011_2016dup (POMGNT1)
ENST00000685230.1:c.*759_*764dup (POMGNT1) ENSP00000510305.1:n.*759_*764dup
ENST00000685275.1:n.1996_2001dup (POMGNT1)
ENST00000685444.1:c.1350_1355dup (POMGNT1) ENSP00000510762.1:p.Arg452_Arg453insGlnArg
ENST00000685704.1:n.2011_2016dup (POMGNT1)
ENST00000685775.1:n.2976_2981dup (POMGNT1)
ENST00000685833.1:n.2327_2332dup (POMGNT1)
ENST00000686252.1:n.2523_2528dup (POMGNT1)
ENST00000686379.1:c.*573_*578dup (POMGNT1) ENSP00000508913.1:n.*573_*578dup
ENST00000686724.1:n.1621_1626dup (POMGNT1)
ENST00000686737.1:c.1449_1454dup (POMGNT1) ENSP00000508736.1:p.Arg485_Arg486insGlnArg
ENST00000687112.1:n.2315_2320dup (POMGNT1)
ENST00000687149.1:c.1449_1454dup (POMGNT1) ENSP00000509745.1:p.Arg485_Arg486insGlnArg
ENST00000687197.1:c.*389_*394dup (POMGNT1) ENSP00000510749.1:n.*389_*394dup
ENST00000687235.1:n.2011_2016dup (POMGNT1)
ENST00000687613.1:n.2199_2204dup (POMGNT1)
ENST00000687683.1:c.1449_1454dup (POMGNT1) ENSP00000508522.1:p.Arg485_Arg486insGlnArg
ENST00000688032.1:n.2011_2016dup (POMGNT1)
ENST00000688596.1:n.2100_2105dup (POMGNT1)
ENST00000688608.1:c.1350_1355dup (POMGNT1) ENSP00000508890.1:p.Arg452_Arg453insGlnArg
ENST00000688919.1:n.2645_2650dup (POMGNT1)
ENST00000689031.1:n.2011_2016dup (POMGNT1)
ENST00000689717.1:n.1621_1626dup (POMGNT1)
ENST00000689756.1:c.*1081_*1086dup (POMGNT1) ENSP00000509023.1:n.*1081_*1086dup
ENST00000690377.1:n.1796_1801dup (POMGNT1)
ENST00000690678.1:c.1449_1454dup (POMGNT1) ENSP00000508703.1:p.Arg485_Arg486insGlnArg
ENST00000691209.1:c.*389_*394dup (POMGNT1) ENSP00000510112.1:n.*389_*394dup
ENST00000691243.1:c.1449_1454dup (POMGNT1) ENSP00000510654.1:p.Arg485_Arg486insGlnArg
ENST00000692169.1:n.1598_1603dup (POMGNT1)
ENST00000692202.1:n.2024_2029dup (POMGNT1)
ENST00000692322.1:c.*1301_*1306dup (POMGNT1) ENSP00000509017.1:n.*1301_*1306dup
ENST00000692369.1:c.1449_1454dup (POMGNT1) ENSP00000508453.1:p.Arg485_Arg486insGlnArg
ENST00000692599.1:n.2011_2016dup (POMGNT1)
ENST00000692635.1:c.*389_*394dup (POMGNT1) ENSP00000508425.1:n.*389_*394dup
ENST00000693168.1:n.1710_1715dup (POMGNT1)
ENST00000693218.1:c.1449_1454dup (POMGNT1) ENSP00000510577.1:p.Arg485_Arg486insGlnArg
ENST00000693223.1:n.2397_2402dup (POMGNT1)
ENST00000693365.1:n.4083_4088dup (POMGNT1)
ENST00000371984.8:c.1449_1454dup (POMGNT1) MANE Select ENSP00000361052.3:p.Arg485_Arg486insGlnArg
ENST00000371984.7:c.1449_1454dup (POMGNT1) ENSP00000361052.3:p.Arg485_Arg486insGlnArg
ENST00000371992.1:c.1449_1454dup (POMGNT1) ENSP00000361060.1:p.Arg485_Arg486insGlnArg
ENST00000396420.7:c.*1118_*1123dup (POMGNT1) ENSP00000379698.3:n.*1118_*1123dup
ENST00000463030.1:n.70_75dup (POMGNT1)
ENST00000485714.1:n.835_840dup (POMGNT1)
NM_001243766.1:c.1449_1454dup (POMGNT1) NP_001230695.1:p.Arg485_Arg486insGlnArg
NM_001290129.1:c.1383_1388dup (POMGNT1) NP_001277058.1:p.Arg463_Arg464insGlnArg
NM_001290130.1:c.1020_1025dup (POMGNT1) NP_001277059.1:p.Arg342_Arg343insGlnArg
NM_017739.3:c.1449_1454dup (POMGNT1) NP_060209.3:p.Arg485_Arg486insGlnArg
XM_005271010.1:c.1449_1454dup (POMGNT1) XP_005271067.1:p.Arg485_Arg486insGlnArg
XM_006710755.1:c.1449_1454dup (POMGNT1) XP_006710818.1:p.Arg485_Arg486insGlnArg
XM_006710756.1:c.1449_1454dup (POMGNT1) XP_006710819.1:p.Arg485_Arg486insGlnArg
XM_011540460.1:c.679-4019_679-4014dup (TSPAN1) XP_011538762.1:n.679-4019_679-4014dup
XM_011540461.1:c.634-4019_634-4014dup (TSPAN1) XP_011538763.1:n.634-4019_634-4014dup
XM_011541759.1:c.1383_1388dup (POMGNT1) XP_011540061.1:p.Arg463_Arg464insGlnArg
XM_011541760.1:c.1383_1388dup (POMGNT1) XP_011540062.1:p.Arg463_Arg464insGlnArg
XM_011541761.1:c.357_362dup (POMGNT1) XP_011540063.1:p.Arg121_Arg122insGlnArg
XR_946706.1:n.1609_1614dup (POMGNT1)
XM_011540460.3:c.679-4019_679-4014dup (TSPAN1) XP_011538762.1:n.679-4019_679-4014dup
XM_011541760.3:c.1383_1388dup (POMGNT1) XP_011540062.1:p.Arg463_Arg464insGlnArg
XM_017001690.1:c.1449_1454dup (POMGNT1) XP_016857179.1:p.Arg485_Arg486insGlnArg
NM_001243766.2:c.1449_1454dup (POMGNT1) NP_001230695.2:p.Arg485_Arg486insGlnArg
NM_001290129.2:c.1383_1388dup (POMGNT1) NP_001277058.2:p.Arg463_Arg464insGlnArg
NM_001290130.2:c.1020_1025dup (POMGNT1) NP_001277059.2:p.Arg342_Arg343insGlnArg
NM_017739.4:c.1449_1454dup (POMGNT1) MANE Select NP_060209.4:p.Arg485_Arg486insGlnArg