Canonical Allele Identifier: CA2474082104
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46192269_46192270delinsTA , CM000663.2:g.46192269_46192270delinsTA GRCh38
NC_000001.10:g.46657941_46657942delinsTA , CM000663.1:g.46657941_46657942delinsTA GRCh37
NC_000001.9:g.46430528_46430529delinsTA NCBI36
NG_009205.2:g.33036_33037delinsTA
NG_009205.3:g.33036_33037delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1413+38_1413+39delinsTA (POMGNT1) ENSP00000379698.4:n.1413+38_1413+39delinsTA
ENST00000477114.2:n.1975+38_1975+39delinsTA (POMGNT1)
ENST00000497439.6:n.1585+38_1585+39delinsTA (POMGNT1)
ENST00000684817.1:n.1773+38_1773+39delinsTA (POMGNT1)
ENST00000684898.1:n.1975+38_1975+39delinsTA (POMGNT1)
ENST00000685230.1:c.*723+38_*723+39delinsTA (POMGNT1) ENSP00000510305.1:n.*723+38_*723+39delinsTA
ENST00000685275.1:n.1960+38_1960+39delinsTA (POMGNT1)
ENST00000685444.1:c.1314+38_1314+39delinsTA (POMGNT1) ENSP00000510762.1:n.1314+38_1314+39delinsTA
ENST00000685704.1:n.1975+38_1975+39delinsTA (POMGNT1)
ENST00000685775.1:n.2940+38_2940+39delinsTA (POMGNT1)
ENST00000685833.1:n.2291+38_2291+39delinsTA (POMGNT1)
ENST00000686252.1:n.2487+38_2487+39delinsTA (POMGNT1)
ENST00000686379.1:c.*537+38_*537+39delinsTA (POMGNT1) ENSP00000508913.1:n.*537+38_*537+39delinsTA
ENST00000686724.1:n.1585+38_1585+39delinsTA (POMGNT1)
ENST00000686737.1:c.1413+38_1413+39delinsTA (POMGNT1) ENSP00000508736.1:n.1413+38_1413+39delinsTA
ENST00000687112.1:n.2279+38_2279+39delinsTA (POMGNT1)
ENST00000687149.1:c.1413+38_1413+39delinsTA (POMGNT1) ENSP00000509745.1:n.1413+38_1413+39delinsTA
ENST00000687197.1:c.*353+38_*353+39delinsTA (POMGNT1) ENSP00000510749.1:n.*353+38_*353+39delinsTA
ENST00000687235.1:n.1975+38_1975+39delinsTA (POMGNT1)
ENST00000687613.1:n.2163+38_2163+39delinsTA (POMGNT1)
ENST00000687683.1:c.1413+38_1413+39delinsTA (POMGNT1) ENSP00000508522.1:n.1413+38_1413+39delinsTA
ENST00000688032.1:n.1975+38_1975+39delinsTA (POMGNT1)
ENST00000688596.1:n.2064+38_2064+39delinsTA (POMGNT1)
ENST00000688608.1:c.1314+38_1314+39delinsTA (POMGNT1) ENSP00000508890.1:n.1314+38_1314+39delinsTA
ENST00000688919.1:n.2609+38_2609+39delinsTA (POMGNT1)
ENST00000689031.1:n.1975+38_1975+39delinsTA (POMGNT1)
ENST00000689717.1:n.1585+38_1585+39delinsTA (POMGNT1)
ENST00000689756.1:c.*1045+38_*1045+39delinsTA (POMGNT1) ENSP00000509023.1:n.*1045+38_*1045+39delinsTA
ENST00000690377.1:n.1760+38_1760+39delinsTA (POMGNT1)
ENST00000690678.1:c.1413+38_1413+39delinsTA (POMGNT1) ENSP00000508703.1:n.1413+38_1413+39delinsTA
ENST00000691209.1:c.*353+38_*353+39delinsTA (POMGNT1) ENSP00000510112.1:n.*353+38_*353+39delinsTA
ENST00000691243.1:c.1413+38_1413+39delinsTA (POMGNT1) ENSP00000510654.1:n.1413+38_1413+39delinsTA
ENST00000692169.1:n.1562+38_1562+39delinsTA (POMGNT1)
ENST00000692202.1:n.1988+38_1988+39delinsTA (POMGNT1)
ENST00000692322.1:c.*1265+38_*1265+39delinsTA (POMGNT1) ENSP00000509017.1:n.*1265+38_*1265+39delinsTA
ENST00000692369.1:c.1413+38_1413+39delinsTA (POMGNT1) ENSP00000508453.1:n.1413+38_1413+39delinsTA
ENST00000692599.1:n.1975+38_1975+39delinsTA (POMGNT1)
ENST00000692635.1:c.*353+38_*353+39delinsTA (POMGNT1) ENSP00000508425.1:n.*353+38_*353+39delinsTA
ENST00000693168.1:n.1674+38_1674+39delinsTA (POMGNT1)
ENST00000693218.1:c.1413+38_1413+39delinsTA (POMGNT1) ENSP00000510577.1:n.1413+38_1413+39delinsTA
ENST00000693223.1:n.2361+38_2361+39delinsTA (POMGNT1)
ENST00000693365.1:n.4047+38_4047+39delinsTA (POMGNT1)
ENST00000371984.8:c.1413+38_1413+39delinsTA (POMGNT1) MANE Select ENSP00000361052.3:n.1413+38_1413+39delinsTA
ENST00000371984.7:c.1413+38_1413+39delinsTA (POMGNT1) ENSP00000361052.3:n.1413+38_1413+39delinsTA
ENST00000371992.1:c.1413+38_1413+39delinsTA (POMGNT1) ENSP00000361060.1:n.1413+38_1413+39delinsTA
ENST00000396420.7:c.*1082+38_*1082+39delinsTA (POMGNT1) ENSP00000379698.3:n.*1082+38_*1082+39delinsTA
ENST00000463030.1:n.34+38_34+39delinsTA (POMGNT1)
ENST00000485714.1:n.799+38_799+39delinsTA (POMGNT1)
NM_001243766.1:c.1413+38_1413+39delinsTA (POMGNT1) NP_001230695.1:n.1413+38_1413+39delinsTA
NM_001290129.1:c.1347+38_1347+39delinsTA (POMGNT1) NP_001277058.1:n.1347+38_1347+39delinsTA
NM_001290130.1:c.984+38_984+39delinsTA (POMGNT1) NP_001277059.1:n.984+38_984+39delinsTA
NM_017739.3:c.1413+38_1413+39delinsTA (POMGNT1) NP_060209.3:n.1413+38_1413+39delinsTA
XM_005271010.1:c.1413+38_1413+39delinsTA (POMGNT1) XP_005271067.1:n.1413+38_1413+39delinsTA
XM_006710755.1:c.1413+38_1413+39delinsTA (POMGNT1) XP_006710818.1:n.1413+38_1413+39delinsTA
XM_006710756.1:c.1413+38_1413+39delinsTA (POMGNT1) XP_006710819.1:n.1413+38_1413+39delinsTA
XM_011540460.1:c.679-3933_679-3932delinsTA (TSPAN1) XP_011538762.1:n.679-3933_679-3932delinsTA
XM_011540461.1:c.634-3933_634-3932delinsTA (TSPAN1) XP_011538763.1:n.634-3933_634-3932delinsTA
XM_011541759.1:c.1347+38_1347+39delinsTA (POMGNT1) XP_011540061.1:n.1347+38_1347+39delinsTA
XM_011541760.1:c.1347+38_1347+39delinsTA (POMGNT1) XP_011540062.1:n.1347+38_1347+39delinsTA
XM_011541761.1:c.321+38_321+39delinsTA (POMGNT1) XP_011540063.1:n.321+38_321+39delinsTA
XR_946706.1:n.1573+38_1573+39delinsTA (POMGNT1)
XM_011540460.3:c.679-3933_679-3932delinsTA (TSPAN1) XP_011538762.1:n.679-3933_679-3932delinsTA
XM_011541760.3:c.1347+38_1347+39delinsTA (POMGNT1) XP_011540062.1:n.1347+38_1347+39delinsTA
XM_017001690.1:c.1413+38_1413+39delinsTA (POMGNT1) XP_016857179.1:n.1413+38_1413+39delinsTA
NM_001243766.2:c.1413+38_1413+39delinsTA (POMGNT1) NP_001230695.2:n.1413+38_1413+39delinsTA
NM_001290129.2:c.1347+38_1347+39delinsTA (POMGNT1) NP_001277058.2:n.1347+38_1347+39delinsTA
NM_001290130.2:c.984+38_984+39delinsTA (POMGNT1) NP_001277059.2:n.984+38_984+39delinsTA
NM_017739.4:c.1413+38_1413+39delinsTA (POMGNT1) MANE Select NP_060209.4:n.1413+38_1413+39delinsTA