Canonical Allele Identifier: CA2573132364
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1412185
ClinVar RCV Id: RCV001943142
dbSNP Id: rs2148167494

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46189953dup , CM000663.2:g.46189953dup GRCh38
NC_000001.10:g.46655625dup , CM000663.1:g.46655625dup GRCh37
NC_000001.9:g.46428212dup NCBI36
NG_009205.2:g.35353dup
NG_009205.3:g.35353dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1686dup (POMGNT1) ENSP00000379698.4:p.Glu563Ter
ENST00000497439.6:n.1858dup (POMGNT1)
ENST00000684817.1:n.2046dup (POMGNT1)
ENST00000684898.1:n.2248dup (POMGNT1)
ENST00000685230.1:c.*996dup (POMGNT1) ENSP00000510305.1:n.*996dup
ENST00000685275.1:n.2233dup (POMGNT1)
ENST00000685444.1:c.1587dup (POMGNT1) ENSP00000510762.1:p.Glu530Ter
ENST00000685704.1:n.2352dup (POMGNT1)
ENST00000685833.1:n.4079dup (POMGNT1)
ENST00000686252.1:n.2760dup (POMGNT1)
ENST00000686379.1:c.*810dup (POMGNT1) ENSP00000508913.1:n.*810dup
ENST00000686724.1:n.3373dup (POMGNT1)
ENST00000686737.1:c.1686dup (POMGNT1) ENSP00000508736.1:p.Glu563Ter
ENST00000687112.1:n.2552dup (POMGNT1)
ENST00000687149.1:c.1725dup (POMGNT1) ENSP00000509745.1:p.Glu576Ter
ENST00000687197.1:c.*626dup (POMGNT1) ENSP00000510749.1:n.*626dup
ENST00000687235.1:n.3763dup (POMGNT1)
ENST00000687613.1:n.2326dup (POMGNT1)
ENST00000687683.1:c.1686dup (POMGNT1) ENSP00000508522.1:p.Glu563Ter
ENST00000688032.1:n.2223dup (POMGNT1)
ENST00000688596.1:n.2337dup (POMGNT1)
ENST00000688608.1:c.1587dup (POMGNT1) ENSP00000508890.1:p.Glu530Ter
ENST00000689031.1:n.2138dup (POMGNT1)
ENST00000689756.1:c.*1318dup (POMGNT1) ENSP00000509023.1:n.*1318dup
ENST00000690377.1:n.2033dup (POMGNT1)
ENST00000690678.1:c.1686dup (POMGNT1) ENSP00000508703.1:p.Glu563Ter
ENST00000691209.1:c.*626dup (POMGNT1) ENSP00000510112.1:n.*626dup
ENST00000691243.1:c.*77dup (POMGNT1) ENSP00000510654.1:n.*77dup
ENST00000692202.1:n.2261dup (POMGNT1)
ENST00000692322.1:c.*1473dup (POMGNT1) ENSP00000509017.1:n.*1473dup
ENST00000692369.1:c.1686dup (POMGNT1) ENSP00000508453.1:p.Glu563Ter
ENST00000692599.1:n.3561dup (POMGNT1)
ENST00000692635.1:c.*561dup (POMGNT1) ENSP00000508425.1:n.*561dup
ENST00000693168.1:n.3462dup (POMGNT1)
ENST00000693218.1:c.*247dup (POMGNT1) ENSP00000510577.1:n.*247dup
ENST00000693223.1:n.2634dup (POMGNT1)
ENST00000371984.8:c.1686dup (POMGNT1) MANE Select ENSP00000361052.3:p.Glu563Ter
ENST00000371984.7:c.1686dup (POMGNT1) ENSP00000361052.3:p.Glu563Ter
ENST00000371992.1:c.1686dup (POMGNT1) ENSP00000361060.1:p.Glu563Ter
ENST00000396420.7:c.*1355dup (POMGNT1) ENSP00000379698.3:n.*1355dup
ENST00000480972.1:n.335dup (POMGNT1)
NM_001243766.1:c.1686dup (POMGNT1) NP_001230695.1:p.Glu563Ter
NM_001290129.1:c.1620dup (POMGNT1) NP_001277058.1:p.Glu541Ter
NM_001290130.1:c.1257dup (POMGNT1) NP_001277059.1:p.Glu420Ter
NM_017739.3:c.1686dup (POMGNT1) NP_060209.3:p.Glu563Ter
XM_005271010.1:c.1686dup (POMGNT1) XP_005271067.1:p.Glu563Ter
XM_006710755.1:c.1686dup (POMGNT1) XP_006710818.1:p.Glu563Ter
XM_006710756.1:c.1686dup (POMGNT1) XP_006710819.1:p.Glu563Ter
XM_011540460.1:c.678+4645dup (TSPAN1) XP_011538762.1:n.678+4645dup
XM_011540461.1:c.633+4645dup (TSPAN1) XP_011538763.1:n.633+4645dup
XM_011541759.1:c.1620dup (POMGNT1) XP_011540061.1:p.Glu541Ter
XM_011541760.1:c.1620dup (POMGNT1) XP_011540062.1:p.Glu541Ter
XM_011541761.1:c.594dup (POMGNT1) XP_011540063.1:p.Glu199Ter
XM_011540460.3:c.678+4645dup (TSPAN1) XP_011538762.1:n.678+4645dup
XM_011541760.3:c.1620dup (POMGNT1) XP_011540062.1:p.Glu541Ter
XM_017001690.1:c.1686dup (POMGNT1) XP_016857179.1:p.Glu563Ter
NM_001243766.2:c.1686dup (POMGNT1) NP_001230695.2:p.Glu563Ter
NM_001290129.2:c.1620dup (POMGNT1) NP_001277058.2:p.Glu541Ter
NM_001290130.2:c.1257dup (POMGNT1) NP_001277059.2:p.Glu420Ter
NM_017739.4:c.1686dup (POMGNT1) MANE Select NP_060209.4:p.Glu563Ter