Canonical Allele Identifier: CA2645439502
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Linked Data

gnomAD v4: 1-46190180-GACTAC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46190182_46190186del , CM000663.2:g.46190182_46190186del GRCh38
NC_000001.10:g.46655854_46655858del , CM000663.1:g.46655854_46655858del GRCh37
NC_000001.9:g.46428441_46428445del NCBI36
NG_009205.2:g.35121_35125del
NG_009205.3:g.35121_35125del

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1650-196_1650-192del (POMGNT1) ENSP00000379698.4:n.1650-196_1650-192del
ENST00000497439.6:n.1822-196_1822-192del (POMGNT1)
ENST00000684817.1:n.2010-196_2010-192del (POMGNT1)
ENST00000684898.1:n.2212-196_2212-192del (POMGNT1)
ENST00000685230.1:c.*960-196_*960-192del (POMGNT1) ENSP00000510305.1:n.*960-196_*960-192del
ENST00000685275.1:n.2197-196_2197-192del (POMGNT1)
ENST00000685444.1:c.1551-196_1551-192del (POMGNT1) ENSP00000510762.1:n.1551-196_1551-192del
ENST00000685704.1:n.2316-196_2316-192del (POMGNT1)
ENST00000685775.1:n.4979_4983del (POMGNT1)
ENST00000685833.1:n.4043-196_4043-192del (POMGNT1)
ENST00000686252.1:n.2724-196_2724-192del (POMGNT1)
ENST00000686379.1:c.*774-196_*774-192del (POMGNT1) ENSP00000508913.1:n.*774-196_*774-192del
ENST00000686724.1:n.3337-196_3337-192del (POMGNT1)
ENST00000686737.1:c.1650-196_1650-192del (POMGNT1) ENSP00000508736.1:n.1650-196_1650-192del
ENST00000687112.1:n.2516-196_2516-192del (POMGNT1)
ENST00000687149.1:c.1689-196_1689-192del (POMGNT1) ENSP00000509745.1:n.1689-196_1689-192del
ENST00000687197.1:c.*590-196_*590-192del (POMGNT1) ENSP00000510749.1:n.*590-196_*590-192del
ENST00000687235.1:n.3727-196_3727-192del (POMGNT1)
ENST00000687613.1:n.2290-196_2290-192del (POMGNT1)
ENST00000687683.1:c.1650-196_1650-192del (POMGNT1) ENSP00000508522.1:n.1650-196_1650-192del
ENST00000688032.1:n.2187-196_2187-192del (POMGNT1)
ENST00000688596.1:n.2301-196_2301-192del (POMGNT1)
ENST00000688608.1:c.1551-196_1551-192del (POMGNT1) ENSP00000508890.1:n.1551-196_1551-192del
ENST00000688919.1:n.3335_3339del (POMGNT1)
ENST00000689031.1:n.2102-196_2102-192del (POMGNT1)
ENST00000689717.1:n.2311_2315del (POMGNT1)
ENST00000689756.1:c.*1282-196_*1282-192del (POMGNT1) ENSP00000509023.1:n.*1282-196_*1282-192del
ENST00000690377.1:n.1997-196_1997-192del (POMGNT1)
ENST00000690678.1:c.1650-196_1650-192del (POMGNT1) ENSP00000508703.1:n.1650-196_1650-192del
ENST00000691209.1:c.*590-196_*590-192del (POMGNT1) ENSP00000510112.1:n.*590-196_*590-192del
ENST00000691243.1:c.*41-196_*41-192del (POMGNT1) ENSP00000510654.1:n.*41-196_*41-192del
ENST00000692202.1:n.2225-196_2225-192del (POMGNT1)
ENST00000692322.1:c.*1437-196_*1437-192del (POMGNT1) ENSP00000509017.1:n.*1437-196_*1437-192del
ENST00000692369.1:c.1650-196_1650-192del (POMGNT1) ENSP00000508453.1:n.1650-196_1650-192del
ENST00000692599.1:n.3525-196_3525-192del (POMGNT1)
ENST00000692635.1:c.*525-196_*525-192del (POMGNT1) ENSP00000508425.1:n.*525-196_*525-192del
ENST00000693168.1:n.3426-196_3426-192del (POMGNT1)
ENST00000693218.1:c.*211-196_*211-192del (POMGNT1) ENSP00000510577.1:n.*211-196_*211-192del
ENST00000693223.1:n.2598-196_2598-192del (POMGNT1)
ENST00000371984.8:c.1650-196_1650-192del (POMGNT1) MANE Select ENSP00000361052.3:n.1650-196_1650-192del
ENST00000371984.7:c.1650-196_1650-192del (POMGNT1) ENSP00000361052.3:n.1650-196_1650-192del
ENST00000371992.1:c.1650-196_1650-192del (POMGNT1) ENSP00000361060.1:n.1650-196_1650-192del
ENST00000396420.7:c.*1319-196_*1319-192del (POMGNT1) ENSP00000379698.3:n.*1319-196_*1319-192del
ENST00000480972.1:n.299-196_299-192del (POMGNT1)
ENST00000485714.1:n.2838_2842del (POMGNT1)
NM_001243766.1:c.1650-196_1650-192del (POMGNT1) NP_001230695.1:n.1650-196_1650-192del
NM_001290129.1:c.1584-196_1584-192del (POMGNT1) NP_001277058.1:n.1584-196_1584-192del
NM_001290130.1:c.1221-196_1221-192del (POMGNT1) NP_001277059.1:n.1221-196_1221-192del
NM_017739.3:c.1650-196_1650-192del (POMGNT1) NP_060209.3:n.1650-196_1650-192del
XM_005271010.1:c.1650-196_1650-192del (POMGNT1) XP_005271067.1:n.1650-196_1650-192del
XM_006710755.1:c.1650-196_1650-192del (POMGNT1) XP_006710818.1:n.1650-196_1650-192del
XM_006710756.1:c.1650-196_1650-192del (POMGNT1) XP_006710819.1:n.1650-196_1650-192del
XM_011540460.1:c.678+4874_678+4878del (TSPAN1) XP_011538762.1:n.678+4874_678+4878del
XM_011540461.1:c.633+4874_633+4878del (TSPAN1) XP_011538763.1:n.633+4874_633+4878del
XM_011541759.1:c.1584-196_1584-192del (POMGNT1) XP_011540061.1:n.1584-196_1584-192del
XM_011541760.1:c.1584-196_1584-192del (POMGNT1) XP_011540062.1:n.1584-196_1584-192del
XM_011541761.1:c.558-196_558-192del (POMGNT1) XP_011540063.1:n.558-196_558-192del
XM_011540460.3:c.678+4874_678+4878del (TSPAN1) XP_011538762.1:n.678+4874_678+4878del
XM_011541760.3:c.1584-196_1584-192del (POMGNT1) XP_011540062.1:n.1584-196_1584-192del
XM_017001690.1:c.1650-196_1650-192del (POMGNT1) XP_016857179.1:n.1650-196_1650-192del
NM_001243766.2:c.1650-196_1650-192del (POMGNT1) NP_001230695.2:n.1650-196_1650-192del
NM_001290129.2:c.1584-196_1584-192del (POMGNT1) NP_001277058.2:n.1584-196_1584-192del
NM_001290130.2:c.1221-196_1221-192del (POMGNT1) NP_001277059.2:n.1221-196_1221-192del
NM_017739.4:c.1650-196_1650-192del (POMGNT1) MANE Select NP_060209.4:n.1650-196_1650-192del
Search 100 bp 5'
Search 100 bp 3'