Canonical Allele Identifier: CA2695198025

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 2677984
• ClinVar RCV Id: RCV003471729

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192575_46192578del , CM000663.2:g.46192575_46192578del	GRCh38
NC_000001.10:g.46658247_46658250del , CM000663.1:g.46658247_46658250del	GRCh37
NC_000001.9:g.46430834_46430837del	NCBI36
NG_009205.2:g.32733_32736del
NG_009205.3:g.32733_32736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1229_1232del (POMGNT1)	ENSP00000379698.4:p.Ile410ThrfsTer?
ENST00000477114.2:n.1791_1794del (POMGNT1)
ENST00000497439.6:n.1401_1404del (POMGNT1)
ENST00000684817.1:n.1589_1592del (POMGNT1)
ENST00000684898.1:n.1791_1794del (POMGNT1)
ENST00000685230.1:c.*539_*542del (POMGNT1)	ENSP00000510305.1:n.*539_*542del
ENST00000685275.1:n.1776_1779del (POMGNT1)
ENST00000685444.1:c.1130_1133del (POMGNT1)	ENSP00000510762.1:p.Ile377ThrfsTer?
ENST00000685704.1:n.1791_1794del (POMGNT1)
ENST00000685775.1:n.2756_2759del (POMGNT1)
ENST00000685833.1:n.2107_2110del (POMGNT1)
ENST00000686252.1:n.2303_2306del (POMGNT1)
ENST00000686379.1:c.*353_*356del (POMGNT1)	ENSP00000508913.1:n.*353_*356del
ENST00000686724.1:n.1401_1404del (POMGNT1)
ENST00000686737.1:c.1229_1232del (POMGNT1)	ENSP00000508736.1:p.Ile410ThrfsTer?
ENST00000687112.1:n.2095_2098del (POMGNT1)
ENST00000687149.1:c.1229_1232del (POMGNT1)	ENSP00000509745.1:p.Ile410ThrfsTer?
ENST00000687197.1:c.*169_*172del (POMGNT1)	ENSP00000510749.1:n.*169_*172del
ENST00000687235.1:n.1791_1794del (POMGNT1)
ENST00000687613.1:n.1979_1982del (POMGNT1)
ENST00000687683.1:c.1229_1232del (POMGNT1)	ENSP00000508522.1:p.Ile410ThrfsTer?
ENST00000688032.1:n.1791_1794del (POMGNT1)
ENST00000688596.1:n.1880_1883del (POMGNT1)
ENST00000688608.1:c.1130_1133del (POMGNT1)	ENSP00000508890.1:p.Ile377ThrfsTer?
ENST00000688919.1:n.2425_2428del (POMGNT1)
ENST00000689031.1:n.1791_1794del (POMGNT1)
ENST00000689717.1:n.1401_1404del (POMGNT1)
ENST00000689756.1:c.*861_*864del (POMGNT1)	ENSP00000509023.1:n.*861_*864del
ENST00000690377.1:n.1576_1579del (POMGNT1)
ENST00000690678.1:c.1229_1232del (POMGNT1)	ENSP00000508703.1:p.Ile410ThrfsTer?
ENST00000691209.1:c.*169_*172del (POMGNT1)	ENSP00000510112.1:n.*169_*172del
ENST00000691243.1:c.1229_1232del (POMGNT1)	ENSP00000510654.1:p.Ile410ThrfsTer?
ENST00000692169.1:n.1378_1381del (POMGNT1)
ENST00000692202.1:n.1804_1807del (POMGNT1)
ENST00000692322.1:c.*1081_*1084del (POMGNT1)	ENSP00000509017.1:n.*1081_*1084del
ENST00000692369.1:c.1229_1232del (POMGNT1)	ENSP00000508453.1:p.Ile410ThrfsTer?
ENST00000692599.1:n.1791_1794del (POMGNT1)
ENST00000692635.1:c.*169_*172del (POMGNT1)	ENSP00000508425.1:n.*169_*172del
ENST00000693168.1:n.1490_1493del (POMGNT1)
ENST00000693218.1:c.1229_1232del (POMGNT1)	ENSP00000510577.1:p.Ile410ThrfsTer?
ENST00000693223.1:n.2177_2180del (POMGNT1)
ENST00000693365.1:n.3863_3866del (POMGNT1)
ENST00000371984.8:c.1229_1232del (POMGNT1) MANE Select	ENSP00000361052.3:p.Ile410ThrfsTer?
ENST00000371984.7:c.1229_1232del (POMGNT1)	ENSP00000361052.3:p.Ile410ThrfsTer?
ENST00000371992.1:c.1229_1232del (POMGNT1)	ENSP00000361060.1:p.Ile410ThrfsTer?
ENST00000396420.7:c.*898_*901del (POMGNT1)	ENSP00000379698.3:n.*898_*901del
ENST00000485714.1:n.615_618del (POMGNT1)
NM_001243766.1:c.1229_1232del (POMGNT1)	NP_001230695.1:p.Ile410ThrfsTer?
NM_001290129.1:c.1163_1166del (POMGNT1)	NP_001277058.1:p.Ile388ThrfsTer?
NM_001290130.1:c.800_803del (POMGNT1)	NP_001277059.1:p.Ile267ThrfsTer?
NM_017739.3:c.1229_1232del (POMGNT1)	NP_060209.3:p.Ile410ThrfsTer?
XM_005271010.1:c.1229_1232del (POMGNT1)	XP_005271067.1:p.Ile410ThrfsTer?
XM_006710755.1:c.1229_1232del (POMGNT1)	XP_006710818.1:p.Ile410ThrfsTer?
XM_006710756.1:c.1229_1232del (POMGNT1)	XP_006710819.1:p.Ile410ThrfsTer?
XM_011540460.1:c.679-3627_679-3624del (TSPAN1)	XP_011538762.1:n.679-3627_679-3624del
XM_011540461.1:c.634-3627_634-3624del (TSPAN1)	XP_011538763.1:n.634-3627_634-3624del
XM_011541759.1:c.1163_1166del (POMGNT1)	XP_011540061.1:p.Ile388ThrfsTer?
XM_011541760.1:c.1163_1166del (POMGNT1)	XP_011540062.1:p.Ile388ThrfsTer?
XM_011541761.1:c.137_140del (POMGNT1)	XP_011540063.1:p.Ile46ThrfsTer?
XR_946706.1:n.1389_1392del (POMGNT1)
XM_011540460.3:c.679-3627_679-3624del (TSPAN1)	XP_011538762.1:n.679-3627_679-3624del
XM_011541760.3:c.1163_1166del (POMGNT1)	XP_011540062.1:p.Ile388ThrfsTer?
XM_017001690.1:c.1229_1232del (POMGNT1)	XP_016857179.1:p.Ile410ThrfsTer?
NM_001243766.2:c.1229_1232del (POMGNT1)	NP_001230695.2:p.Ile410ThrfsTer?
NM_001290129.2:c.1163_1166del (POMGNT1)	NP_001277058.2:p.Ile388ThrfsTer?
NM_001290130.2:c.800_803del (POMGNT1)	NP_001277059.2:p.Ile267ThrfsTer?
NM_017739.4:c.1229_1232del (POMGNT1) MANE Select	NP_060209.4:p.Ile410ThrfsTer?