Canonical Allele Identifier: CA2574356092

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 1945000
• ClinVar RCV Id: RCV002640059

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190507_46190508del , CM000663.2:g.46190507_46190508del	GRCh38
NC_000001.10:g.46656179_46656180del , CM000663.1:g.46656179_46656180del	GRCh37
NC_000001.9:g.46428766_46428767del	NCBI36
NG_009205.2:g.34799_34800del
NG_009205.3:g.34799_34800del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1615_1616del (POMGNT1)	ENSP00000379698.4:p.Glu539SerfsTer3
ENST00000477114.2:n.2177_2178del (POMGNT1)
ENST00000497439.6:n.1787_1788del (POMGNT1)
ENST00000684817.1:n.1975_1976del (POMGNT1)
ENST00000684898.1:n.2177_2178del (POMGNT1)
ENST00000685230.1:c.*925_*926del (POMGNT1)	ENSP00000510305.1:n.*925_*926del
ENST00000685275.1:n.2162_2163del (POMGNT1)
ENST00000685444.1:c.1516_1517del (POMGNT1)	ENSP00000510762.1:p.Glu506SerfsTer3
ENST00000685704.1:n.2281_2282del (POMGNT1)
ENST00000685775.1:n.4657_4658del (POMGNT1)
ENST00000685833.1:n.4008_4009del (POMGNT1)
ENST00000686252.1:n.2689_2690del (POMGNT1)
ENST00000686379.1:c.*739_*740del (POMGNT1)	ENSP00000508913.1:n.*739_*740del
ENST00000686724.1:n.3302_3303del (POMGNT1)
ENST00000686737.1:c.1615_1616del (POMGNT1)	ENSP00000508736.1:p.Glu539SerfsTer3
ENST00000687112.1:n.2481_2482del (POMGNT1)
ENST00000687149.1:c.1654_1655del (POMGNT1)	ENSP00000509745.1:p.Glu552SerfsTer3
ENST00000687197.1:c.*555_*556del (POMGNT1)	ENSP00000510749.1:n.*555_*556del
ENST00000687235.1:n.3692_3693del (POMGNT1)
ENST00000687613.1:n.2290-518_2290-517del (POMGNT1)
ENST00000687683.1:c.1615_1616del (POMGNT1)	ENSP00000508522.1:p.Glu539SerfsTer3
ENST00000688032.1:n.2152_2153del (POMGNT1)
ENST00000688596.1:n.2266_2267del (POMGNT1)
ENST00000688608.1:c.1516_1517del (POMGNT1)	ENSP00000508890.1:p.Glu506SerfsTer3
ENST00000688919.1:n.3013_3014del (POMGNT1)
ENST00000689031.1:n.2102-518_2102-517del (POMGNT1)
ENST00000689717.1:n.1989_1990del (POMGNT1)
ENST00000689756.1:c.*1247_*1248del (POMGNT1)	ENSP00000509023.1:n.*1247_*1248del
ENST00000690377.1:n.1962_1963del (POMGNT1)
ENST00000690678.1:c.1615_1616del (POMGNT1)	ENSP00000508703.1:p.Glu539SerfsTer3
ENST00000691209.1:c.*555_*556del (POMGNT1)	ENSP00000510112.1:n.*555_*556del
ENST00000691243.1:c.*6_*7del (POMGNT1)	ENSP00000510654.1:n.*6_*7del
ENST00000692169.1:n.3279_3280del (POMGNT1)
ENST00000692202.1:n.2190_2191del (POMGNT1)
ENST00000692322.1:c.*1402_*1403del (POMGNT1)	ENSP00000509017.1:n.*1402_*1403del
ENST00000692369.1:c.1615_1616del (POMGNT1)	ENSP00000508453.1:p.Glu539SerfsTer3
ENST00000692599.1:n.3490_3491del (POMGNT1)
ENST00000692635.1:c.*490_*491del (POMGNT1)	ENSP00000508425.1:n.*490_*491del
ENST00000693168.1:n.3391_3392del (POMGNT1)
ENST00000693218.1:c.*176_*177del (POMGNT1)	ENSP00000510577.1:n.*176_*177del
ENST00000693223.1:n.2563_2564del (POMGNT1)
ENST00000693365.1:n.5764_5765del (POMGNT1)
ENST00000371984.8:c.1615_1616del (POMGNT1) MANE Select	ENSP00000361052.3:p.Glu539SerfsTer3
ENST00000371984.7:c.1615_1616del (POMGNT1)	ENSP00000361052.3:p.Glu539SerfsTer3
ENST00000371992.1:c.1615_1616del (POMGNT1)	ENSP00000361060.1:p.Glu539SerfsTer3
ENST00000396420.7:c.*1284_*1285del (POMGNT1)	ENSP00000379698.3:n.*1284_*1285del
ENST00000480972.1:n.264_265del (POMGNT1)
ENST00000485714.1:n.2516_2517del (POMGNT1)
NM_001243766.1:c.1615_1616del (POMGNT1)	NP_001230695.1:p.Glu539SerfsTer3
NM_001290129.1:c.1549_1550del (POMGNT1)	NP_001277058.1:p.Glu517SerfsTer3
NM_001290130.1:c.1186_1187del (POMGNT1)	NP_001277059.1:p.Glu396SerfsTer3
NM_017739.3:c.1615_1616del (POMGNT1)	NP_060209.3:p.Glu539SerfsTer3
XM_005271010.1:c.1615_1616del (POMGNT1)	XP_005271067.1:p.Glu539SerfsTer3
XM_006710755.1:c.1615_1616del (POMGNT1)	XP_006710818.1:p.Glu539SerfsTer3
XM_006710756.1:c.1615_1616del (POMGNT1)	XP_006710819.1:p.Glu539SerfsTer3
XM_011540460.1:c.678+5199_678+5200del (TSPAN1)	XP_011538762.1:n.678+5199_678+5200del
XM_011540461.1:c.633+5199_633+5200del (TSPAN1)	XP_011538763.1:n.633+5199_633+5200del
XM_011541759.1:c.1549_1550del (POMGNT1)	XP_011540061.1:p.Glu517SerfsTer3
XM_011541760.1:c.1549_1550del (POMGNT1)	XP_011540062.1:p.Glu517SerfsTer3
XM_011541761.1:c.523_524del (POMGNT1)	XP_011540063.1:p.Glu175SerfsTer3
XM_011540460.3:c.678+5199_678+5200del (TSPAN1)	XP_011538762.1:n.678+5199_678+5200del
XM_011541760.3:c.1549_1550del (POMGNT1)	XP_011540062.1:p.Glu517SerfsTer3
XM_017001690.1:c.1615_1616del (POMGNT1)	XP_016857179.1:p.Glu539SerfsTer3
NM_001243766.2:c.1615_1616del (POMGNT1)	NP_001230695.2:p.Glu539SerfsTer3
NM_001290129.2:c.1549_1550del (POMGNT1)	NP_001277058.2:p.Glu517SerfsTer3
NM_001290130.2:c.1186_1187del (POMGNT1)	NP_001277059.2:p.Glu396SerfsTer3
NM_017739.4:c.1615_1616del (POMGNT1) MANE Select	NP_060209.4:p.Glu539SerfsTer3