Canonical Allele Identifier: CA1144228797

Gene: POMGNT1 TSPAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192367_46192381delinsCCCAGCCCAGCCCAG , CM000663.2:g.46192367_46192381delinsCCCAGCCCAGCCCAG	GRCh38
NC_000001.10:g.46658039_46658053delinsCCCAGCCCAGCCCAG , CM000663.1:g.46658039_46658053delinsCCCAGCCCAGCCCAG	GRCh37
NC_000001.9:g.46430626_46430640delinsCCCAGCCCAGCCCAG	NCBI36
NG_009205.2:g.32925_32939delinsCTGGGCTGGGCTGGG
NG_009205.3:g.32925_32939delinsCTGGGCTGGGCTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1340_1354delinsCTGGGCTGGGCTGGG (POMGNT1)	ENSP00000379698.4:p.Pro447=
ENST00000477114.2:n.1902_1916delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000497439.6:n.1512_1526delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000684817.1:n.1700_1714delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000684898.1:n.1902_1916delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000685230.1:c.*650_*664delinsCTGGGCTGGGCTGGG (POMGNT1)	ENSP00000510305.1:n.*650_*664delinsCTGGGCTGGGCTGGG
ENST00000685275.1:n.1887_1901delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000685444.1:c.1241_1255delinsCTGGGCTGGGCTGGG (POMGNT1)	ENSP00000510762.1:p.Pro414=
ENST00000685704.1:n.1902_1916delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000685775.1:n.2867_2881delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000685833.1:n.2218_2232delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000686252.1:n.2414_2428delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000686379.1:c.*464_*478delinsCTGGGCTGGGCTGGG (POMGNT1)	ENSP00000508913.1:n.*464_*478delinsCTGGGCTGGGCTGGG
ENST00000686724.1:n.1512_1526delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000686737.1:c.1340_1354delinsCTGGGCTGGGCTGGG (POMGNT1)	ENSP00000508736.1:p.Pro447=
ENST00000687112.1:n.2206_2220delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000687149.1:c.1340_1354delinsCTGGGCTGGGCTGGG (POMGNT1)	ENSP00000509745.1:p.Pro447=
ENST00000687197.1:c.*280_*294delinsCTGGGCTGGGCTGGG (POMGNT1)	ENSP00000510749.1:n.*280_*294delinsCTGGGCTGGGCTGGG
ENST00000687235.1:n.1902_1916delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000687613.1:n.2090_2104delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000687683.1:c.1340_1354delinsCTGGGCTGGGCTGGG (POMGNT1)	ENSP00000508522.1:p.Pro447=
ENST00000688032.1:n.1902_1916delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000688596.1:n.1991_2005delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000688608.1:c.1241_1255delinsCTGGGCTGGGCTGGG (POMGNT1)	ENSP00000508890.1:p.Pro414=
ENST00000688919.1:n.2536_2550delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000689031.1:n.1902_1916delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000689717.1:n.1512_1526delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000689756.1:c.*972_*986delinsCTGGGCTGGGCTGGG (POMGNT1)	ENSP00000509023.1:n.*972_*986delinsCTGGGCTGGGCTGGG
ENST00000690377.1:n.1687_1701delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000690678.1:c.1340_1354delinsCTGGGCTGGGCTGGG (POMGNT1)	ENSP00000508703.1:p.Pro447=
ENST00000691209.1:c.*280_*294delinsCTGGGCTGGGCTGGG (POMGNT1)	ENSP00000510112.1:n.*280_*294delinsCTGGGCTGGGCTGGG
ENST00000691243.1:c.1340_1354delinsCTGGGCTGGGCTGGG (POMGNT1)	ENSP00000510654.1:p.Pro447=
ENST00000692169.1:n.1489_1503delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000692202.1:n.1915_1929delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000692322.1:c.*1192_*1206delinsCTGGGCTGGGCTGGG (POMGNT1)	ENSP00000509017.1:n.*1192_*1206delinsCTGGGCTGGGCTGGG
ENST00000692369.1:c.1340_1354delinsCTGGGCTGGGCTGGG (POMGNT1)	ENSP00000508453.1:p.Pro447=
ENST00000692599.1:n.1902_1916delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000692635.1:c.*280_*294delinsCTGGGCTGGGCTGGG (POMGNT1)	ENSP00000508425.1:n.*280_*294delinsCTGGGCTGGGCTGGG
ENST00000693168.1:n.1601_1615delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000693218.1:c.1340_1354delinsCTGGGCTGGGCTGGG (POMGNT1)	ENSP00000510577.1:p.Pro447=
ENST00000693223.1:n.2288_2302delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000693365.1:n.3974_3988delinsCTGGGCTGGGCTGGG (POMGNT1)
ENST00000371984.8:c.1340_1354delinsCTGGGCTGGGCTGGG (POMGNT1) MANE Select	ENSP00000361052.3:p.Pro447=
ENST00000371984.7:c.1340_1354delinsCTGGGCTGGGCTGGG (POMGNT1)	ENSP00000361052.3:p.Pro447=
ENST00000371992.1:c.1340_1354delinsCTGGGCTGGGCTGGG (POMGNT1)	ENSP00000361060.1:p.Pro447=
ENST00000396420.7:c.*1009_*1023delinsCTGGGCTGGGCTGGG (POMGNT1)	ENSP00000379698.3:n.*1009_*1023delinsCTGGGCTGGGCTGGG
ENST00000485714.1:n.726_740delinsCTGGGCTGGGCTGGG (POMGNT1)
NM_001243766.1:c.1340_1354delinsCTGGGCTGGGCTGGG (POMGNT1)	NP_001230695.1:p.Pro447=
NM_001290129.1:c.1274_1288delinsCTGGGCTGGGCTGGG (POMGNT1)	NP_001277058.1:p.Pro425=
NM_001290130.1:c.911_925delinsCTGGGCTGGGCTGGG (POMGNT1)	NP_001277059.1:p.Pro304=
NM_017739.3:c.1340_1354delinsCTGGGCTGGGCTGGG (POMGNT1)	NP_060209.3:p.Pro447=
XM_005271010.1:c.1340_1354delinsCTGGGCTGGGCTGGG (POMGNT1)	XP_005271067.1:p.Pro447=
XM_006710755.1:c.1340_1354delinsCTGGGCTGGGCTGGG (POMGNT1)	XP_006710818.1:p.Pro447=
XM_006710756.1:c.1340_1354delinsCTGGGCTGGGCTGGG (POMGNT1)	XP_006710819.1:p.Pro447=
XM_011540460.1:c.679-3835_679-3821delinsCCCAGCCCAGCCCAG (TSPAN1)	XP_011538762.1:n.679-3835_679-3821delinsCCCAGCCCAGCCCAG
XM_011540461.1:c.634-3835_634-3821delinsCCCAGCCCAGCCCAG (TSPAN1)	XP_011538763.1:n.634-3835_634-3821delinsCCCAGCCCAGCCCAG
XM_011541759.1:c.1274_1288delinsCTGGGCTGGGCTGGG (POMGNT1)	XP_011540061.1:p.Pro425=
XM_011541760.1:c.1274_1288delinsCTGGGCTGGGCTGGG (POMGNT1)	XP_011540062.1:p.Pro425=
XM_011541761.1:c.248_262delinsCTGGGCTGGGCTGGG (POMGNT1)	XP_011540063.1:p.Pro83=
XR_946706.1:n.1500_1514delinsCTGGGCTGGGCTGGG (POMGNT1)
XM_011540460.3:c.679-3835_679-3821delinsCCCAGCCCAGCCCAG (TSPAN1)	XP_011538762.1:n.679-3835_679-3821delinsCCCAGCCCAGCCCAG
XM_011541760.3:c.1274_1288delinsCTGGGCTGGGCTGGG (POMGNT1)	XP_011540062.1:p.Pro425=
XM_017001690.1:c.1340_1354delinsCTGGGCTGGGCTGGG (POMGNT1)	XP_016857179.1:p.Pro447=
NM_001243766.2:c.1340_1354delinsCTGGGCTGGGCTGGG (POMGNT1)	NP_001230695.2:p.Pro447=
NM_001290129.2:c.1274_1288delinsCTGGGCTGGGCTGGG (POMGNT1)	NP_001277058.2:p.Pro425=
NM_001290130.2:c.911_925delinsCTGGGCTGGGCTGGG (POMGNT1)	NP_001277059.2:p.Pro304=
NM_017739.4:c.1340_1354delinsCTGGGCTGGGCTGGG (POMGNT1) MANE Select	NP_060209.4:p.Pro447=