Canonical Allele Identifier: CA2474082079

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 1297713
• ClinVar RCV Id: RCV001725256
• dbSNP Id: rs1657829644
• gnomAD v4: 1-46192206-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192207_46192208del , CM000663.2:g.46192207_46192208del	GRCh38
NC_000001.10:g.46657879_46657880del , CM000663.1:g.46657879_46657880del	GRCh37
NC_000001.9:g.46430466_46430467del	NCBI36
NG_009205.2:g.33098_33099del
NG_009205.3:g.33098_33099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1429_1430del (POMGNT1)	ENSP00000379698.4:p.Met477ValfsTer6
ENST00000477114.2:n.1991_1992del (POMGNT1)
ENST00000497439.6:n.1601_1602del (POMGNT1)
ENST00000684817.1:n.1789_1790del (POMGNT1)
ENST00000684898.1:n.1991_1992del (POMGNT1)
ENST00000685230.1:c.*739_*740del (POMGNT1)	ENSP00000510305.1:n.*739_*740del
ENST00000685275.1:n.1976_1977del (POMGNT1)
ENST00000685444.1:c.1330_1331del (POMGNT1)	ENSP00000510762.1:p.Met444ValfsTer6
ENST00000685704.1:n.1991_1992del (POMGNT1)
ENST00000685775.1:n.2956_2957del (POMGNT1)
ENST00000685833.1:n.2307_2308del (POMGNT1)
ENST00000686252.1:n.2503_2504del (POMGNT1)
ENST00000686379.1:c.*553_*554del (POMGNT1)	ENSP00000508913.1:n.*553_*554del
ENST00000686724.1:n.1601_1602del (POMGNT1)
ENST00000686737.1:c.1429_1430del (POMGNT1)	ENSP00000508736.1:p.Met477ValfsTer6
ENST00000687112.1:n.2295_2296del (POMGNT1)
ENST00000687149.1:c.1429_1430del (POMGNT1)	ENSP00000509745.1:p.Met477ValfsTer6
ENST00000687197.1:c.*369_*370del (POMGNT1)	ENSP00000510749.1:n.*369_*370del
ENST00000687235.1:n.1991_1992del (POMGNT1)
ENST00000687613.1:n.2179_2180del (POMGNT1)
ENST00000687683.1:c.1429_1430del (POMGNT1)	ENSP00000508522.1:p.Met477ValfsTer6
ENST00000688032.1:n.1991_1992del (POMGNT1)
ENST00000688596.1:n.2080_2081del (POMGNT1)
ENST00000688608.1:c.1330_1331del (POMGNT1)	ENSP00000508890.1:p.Met444ValfsTer6
ENST00000688919.1:n.2625_2626del (POMGNT1)
ENST00000689031.1:n.1991_1992del (POMGNT1)
ENST00000689717.1:n.1601_1602del (POMGNT1)
ENST00000689756.1:c.*1061_*1062del (POMGNT1)	ENSP00000509023.1:n.*1061_*1062del
ENST00000690377.1:n.1776_1777del (POMGNT1)
ENST00000690678.1:c.1429_1430del (POMGNT1)	ENSP00000508703.1:p.Met477ValfsTer6
ENST00000691209.1:c.*369_*370del (POMGNT1)	ENSP00000510112.1:n.*369_*370del
ENST00000691243.1:c.1429_1430del (POMGNT1)	ENSP00000510654.1:p.Met477ValfsTer6
ENST00000692169.1:n.1578_1579del (POMGNT1)
ENST00000692202.1:n.2004_2005del (POMGNT1)
ENST00000692322.1:c.*1281_*1282del (POMGNT1)	ENSP00000509017.1:n.*1281_*1282del
ENST00000692369.1:c.1429_1430del (POMGNT1)	ENSP00000508453.1:p.Met477ValfsTer6
ENST00000692599.1:n.1991_1992del (POMGNT1)
ENST00000692635.1:c.*369_*370del (POMGNT1)	ENSP00000508425.1:n.*369_*370del
ENST00000693168.1:n.1690_1691del (POMGNT1)
ENST00000693218.1:c.1429_1430del (POMGNT1)	ENSP00000510577.1:p.Met477ValfsTer6
ENST00000693223.1:n.2377_2378del (POMGNT1)
ENST00000693365.1:n.4063_4064del (POMGNT1)
ENST00000371984.8:c.1429_1430del (POMGNT1) MANE Select	ENSP00000361052.3:p.Met477ValfsTer6
ENST00000371984.7:c.1429_1430del (POMGNT1)	ENSP00000361052.3:p.Met477ValfsTer6
ENST00000371992.1:c.1429_1430del (POMGNT1)	ENSP00000361060.1:p.Met477ValfsTer6
ENST00000396420.7:c.*1098_*1099del (POMGNT1)	ENSP00000379698.3:n.*1098_*1099del
ENST00000463030.1:n.50_51del (POMGNT1)
ENST00000485714.1:n.815_816del (POMGNT1)
NM_001243766.1:c.1429_1430del (POMGNT1)	NP_001230695.1:p.Met477ValfsTer6
NM_001290129.1:c.1363_1364del (POMGNT1)	NP_001277058.1:p.Met455ValfsTer6
NM_001290130.1:c.1000_1001del (POMGNT1)	NP_001277059.1:p.Met334ValfsTer6
NM_017739.3:c.1429_1430del (POMGNT1)	NP_060209.3:p.Met477ValfsTer6
XM_005271010.1:c.1429_1430del (POMGNT1)	XP_005271067.1:p.Met477ValfsTer6
XM_006710755.1:c.1429_1430del (POMGNT1)	XP_006710818.1:p.Met477ValfsTer6
XM_006710756.1:c.1429_1430del (POMGNT1)	XP_006710819.1:p.Met477ValfsTer6
XM_011540460.1:c.679-3995_679-3994del (TSPAN1)	XP_011538762.1:n.679-3995_679-3994del
XM_011540461.1:c.634-3995_634-3994del (TSPAN1)	XP_011538763.1:n.634-3995_634-3994del
XM_011541759.1:c.1363_1364del (POMGNT1)	XP_011540061.1:p.Met455ValfsTer6
XM_011541760.1:c.1363_1364del (POMGNT1)	XP_011540062.1:p.Met455ValfsTer6
XM_011541761.1:c.337_338del (POMGNT1)	XP_011540063.1:p.Met113ValfsTer6
XR_946706.1:n.1589_1590del (POMGNT1)
XM_011540460.3:c.679-3995_679-3994del (TSPAN1)	XP_011538762.1:n.679-3995_679-3994del
XM_011541760.3:c.1363_1364del (POMGNT1)	XP_011540062.1:p.Met455ValfsTer6
XM_017001690.1:c.1429_1430del (POMGNT1)	XP_016857179.1:p.Met477ValfsTer6
NM_001243766.2:c.1429_1430del (POMGNT1)	NP_001230695.2:p.Met477ValfsTer6
NM_001290129.2:c.1363_1364del (POMGNT1)	NP_001277058.2:p.Met455ValfsTer6
NM_001290130.2:c.1000_1001del (POMGNT1)	NP_001277059.2:p.Met334ValfsTer6
NM_017739.4:c.1429_1430del (POMGNT1) MANE Select	NP_060209.4:p.Met477ValfsTer6