Canonical Allele Identifier: CA2519820672

Gene: POMGNT1 TSPAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192583_46192584del , CM000663.2:g.46192583_46192584del	GRCh38
NC_000001.10:g.46658255_46658256del , CM000663.1:g.46658255_46658256del	GRCh37
NC_000001.9:g.46430842_46430843del	NCBI36
NG_009205.2:g.32723_32724del
NG_009205.3:g.32723_32724del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1219_1220del (POMGNT1)	ENSP00000379698.4:p.Ser407ProfsTer10
ENST00000477114.2:n.1781_1782del (POMGNT1)
ENST00000497439.6:n.1391_1392del (POMGNT1)
ENST00000684817.1:n.1579_1580del (POMGNT1)
ENST00000684898.1:n.1781_1782del (POMGNT1)
ENST00000685230.1:c.*529_*530del (POMGNT1)	ENSP00000510305.1:n.*529_*530del
ENST00000685275.1:n.1766_1767del (POMGNT1)
ENST00000685444.1:c.1120_1121del (POMGNT1)	ENSP00000510762.1:p.Ser374ProfsTer10
ENST00000685704.1:n.1781_1782del (POMGNT1)
ENST00000685775.1:n.2746_2747del (POMGNT1)
ENST00000685833.1:n.2097_2098del (POMGNT1)
ENST00000686252.1:n.2293_2294del (POMGNT1)
ENST00000686379.1:c.*343_*344del (POMGNT1)	ENSP00000508913.1:n.*343_*344del
ENST00000686724.1:n.1391_1392del (POMGNT1)
ENST00000686737.1:c.1219_1220del (POMGNT1)	ENSP00000508736.1:p.Ser407ProfsTer10
ENST00000687112.1:n.2085_2086del (POMGNT1)
ENST00000687149.1:c.1219_1220del (POMGNT1)	ENSP00000509745.1:p.Ser407ProfsTer10
ENST00000687197.1:c.*159_*160del (POMGNT1)	ENSP00000510749.1:n.*159_*160del
ENST00000687235.1:n.1781_1782del (POMGNT1)
ENST00000687613.1:n.1969_1970del (POMGNT1)
ENST00000687683.1:c.1219_1220del (POMGNT1)	ENSP00000508522.1:p.Ser407ProfsTer10
ENST00000688032.1:n.1781_1782del (POMGNT1)
ENST00000688596.1:n.1870_1871del (POMGNT1)
ENST00000688608.1:c.1120_1121del (POMGNT1)	ENSP00000508890.1:p.Ser374ProfsTer10
ENST00000688919.1:n.2415_2416del (POMGNT1)
ENST00000689031.1:n.1781_1782del (POMGNT1)
ENST00000689717.1:n.1391_1392del (POMGNT1)
ENST00000689756.1:c.*851_*852del (POMGNT1)	ENSP00000509023.1:n.*851_*852del
ENST00000690377.1:n.1566_1567del (POMGNT1)
ENST00000690678.1:c.1219_1220del (POMGNT1)	ENSP00000508703.1:p.Ser407ProfsTer10
ENST00000691209.1:c.*159_*160del (POMGNT1)	ENSP00000510112.1:n.*159_*160del
ENST00000691243.1:c.1219_1220del (POMGNT1)	ENSP00000510654.1:p.Ser407ProfsTer10
ENST00000692169.1:n.1368_1369del (POMGNT1)
ENST00000692202.1:n.1794_1795del (POMGNT1)
ENST00000692322.1:c.*1071_*1072del (POMGNT1)	ENSP00000509017.1:n.*1071_*1072del
ENST00000692369.1:c.1219_1220del (POMGNT1)	ENSP00000508453.1:p.Ser407ProfsTer10
ENST00000692599.1:n.1781_1782del (POMGNT1)
ENST00000692635.1:c.*159_*160del (POMGNT1)	ENSP00000508425.1:n.*159_*160del
ENST00000693168.1:n.1480_1481del (POMGNT1)
ENST00000693218.1:c.1219_1220del (POMGNT1)	ENSP00000510577.1:p.Ser407ProfsTer10
ENST00000693223.1:n.2167_2168del (POMGNT1)
ENST00000693365.1:n.3853_3854del (POMGNT1)
ENST00000371984.8:c.1219_1220del (POMGNT1) MANE Select	ENSP00000361052.3:p.Ser407ProfsTer10
ENST00000371984.7:c.1219_1220del (POMGNT1)	ENSP00000361052.3:p.Ser407ProfsTer10
ENST00000371992.1:c.1219_1220del (POMGNT1)	ENSP00000361060.1:p.Ser407ProfsTer10
ENST00000396420.7:c.*888_*889del (POMGNT1)	ENSP00000379698.3:n.*888_*889del
ENST00000485714.1:n.605_606del (POMGNT1)
NM_001243766.1:c.1219_1220del (POMGNT1)	NP_001230695.1:p.Ser407ProfsTer10
NM_001290129.1:c.1153_1154del (POMGNT1)	NP_001277058.1:p.Ser385ProfsTer10
NM_001290130.1:c.790_791del (POMGNT1)	NP_001277059.1:p.Ser264ProfsTer10
NM_017739.3:c.1219_1220del (POMGNT1)	NP_060209.3:p.Ser407ProfsTer10
XM_005271010.1:c.1219_1220del (POMGNT1)	XP_005271067.1:p.Ser407ProfsTer10
XM_006710755.1:c.1219_1220del (POMGNT1)	XP_006710818.1:p.Ser407ProfsTer10
XM_006710756.1:c.1219_1220del (POMGNT1)	XP_006710819.1:p.Ser407ProfsTer10
XM_011540460.1:c.679-3619_679-3618del (TSPAN1)	XP_011538762.1:n.679-3619_679-3618del
XM_011540461.1:c.634-3619_634-3618del (TSPAN1)	XP_011538763.1:n.634-3619_634-3618del
XM_011541759.1:c.1153_1154del (POMGNT1)	XP_011540061.1:p.Ser385ProfsTer10
XM_011541760.1:c.1153_1154del (POMGNT1)	XP_011540062.1:p.Ser385ProfsTer10
XM_011541761.1:c.127_128del (POMGNT1)	XP_011540063.1:p.Ser43ProfsTer10
XR_946706.1:n.1379_1380del (POMGNT1)
XM_011540460.3:c.679-3619_679-3618del (TSPAN1)	XP_011538762.1:n.679-3619_679-3618del
XM_011541760.3:c.1153_1154del (POMGNT1)	XP_011540062.1:p.Ser385ProfsTer10
XM_017001690.1:c.1219_1220del (POMGNT1)	XP_016857179.1:p.Ser407ProfsTer10
NM_001243766.2:c.1219_1220del (POMGNT1)	NP_001230695.2:p.Ser407ProfsTer10
NM_001290129.2:c.1153_1154del (POMGNT1)	NP_001277058.2:p.Ser385ProfsTer10
NM_001290130.2:c.790_791del (POMGNT1)	NP_001277059.2:p.Ser264ProfsTer10
NM_017739.4:c.1219_1220del (POMGNT1) MANE Select	NP_060209.4:p.Ser407ProfsTer10