Canonical Allele Identifier: CA16040754
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371543
dbSNP Id: rs1057517355

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46195867del , CM000663.2:g.46195867del GRCh38
NC_000001.10:g.46661539del , CM000663.1:g.46661539del GRCh37
NC_000001.9:g.46434126del NCBI36
NG_009205.2:g.29439del
NG_009205.3:g.29439del

Transcript Alleles

HGVS Amino-acid change
ENST00000396420.8:c.478del (POMGNT1) ENSP00000379698.4:p.Met160TrpfsTer8
ENST00000477114.2:n.650del (POMGNT1)
ENST00000497439.6:n.650del (POMGNT1)
ENST00000684817.1:n.646del (POMGNT1)
ENST00000684898.1:n.650del (POMGNT1)
ENST00000685230.1:c.478del (POMGNT1) ENSP00000510305.1:p.Met160TrpfsTer8
ENST00000685275.1:n.635del (POMGNT1)
ENST00000685444.1:c.478del (POMGNT1) ENSP00000510762.1:p.Met160TrpfsTer8
ENST00000685704.1:n.650del (POMGNT1)
ENST00000685775.1:n.1423del (POMGNT1)
ENST00000685833.1:n.623del (POMGNT1)
ENST00000686252.1:n.1552del (POMGNT1)
ENST00000686379.1:c.478del (POMGNT1) ENSP00000508913.1:p.Met160TrpfsTer8
ENST00000686724.1:n.650del (POMGNT1)
ENST00000686737.1:c.478del (POMGNT1) ENSP00000508736.1:p.Met160TrpfsTer8
ENST00000687112.1:n.650del (POMGNT1)
ENST00000687149.1:c.478del (POMGNT1) ENSP00000509745.1:p.Met160TrpfsTer8
ENST00000687197.1:c.478del (POMGNT1) ENSP00000510749.1:p.Met160TrpfsTer8
ENST00000687235.1:n.650del (POMGNT1)
ENST00000687613.1:n.646del (POMGNT1)
ENST00000687683.1:c.478del (POMGNT1) ENSP00000508522.1:p.Met160TrpfsTer8
ENST00000688032.1:n.650del (POMGNT1)
ENST00000688596.1:n.650del (POMGNT1)
ENST00000688608.1:c.478del (POMGNT1) ENSP00000508890.1:p.Met160TrpfsTer8
ENST00000688919.1:n.1284del (POMGNT1)
ENST00000689031.1:n.650del (POMGNT1)
ENST00000689717.1:n.650del (POMGNT1)
ENST00000689756.1:c.*110del (POMGNT1) ENSP00000509023.1:n.*110del
ENST00000690377.1:n.650del (POMGNT1)
ENST00000690678.1:c.478del (POMGNT1) ENSP00000508703.1:p.Met160TrpfsTer8
ENST00000691209.1:c.478del (POMGNT1) ENSP00000510112.1:p.Met160TrpfsTer8
ENST00000691243.1:c.478del (POMGNT1) ENSP00000510654.1:p.Met160TrpfsTer8
ENST00000692169.1:n.650del (POMGNT1)
ENST00000692202.1:n.646del (POMGNT1)
ENST00000692322.1:c.*330del (POMGNT1) ENSP00000509017.1:n.*330del
ENST00000692369.1:c.478del (POMGNT1) ENSP00000508453.1:p.Met160TrpfsTer8
ENST00000692599.1:n.650del (POMGNT1)
ENST00000692635.1:c.478del (POMGNT1) ENSP00000508425.1:p.Met160TrpfsTer8
ENST00000693168.1:n.650del (POMGNT1)
ENST00000693218.1:c.478del (POMGNT1) ENSP00000510577.1:p.Met160TrpfsTer8
ENST00000693223.1:n.1122del (POMGNT1)
ENST00000693365.1:n.1377del (POMGNT1)
ENST00000371984.8:c.478del (POMGNT1) MANE Select ENSP00000361052.3:p.Met160TrpfsTer8
ENST00000371984.7:c.478del (POMGNT1) ENSP00000361052.3:p.Met160TrpfsTer8
ENST00000371992.1:c.478del (POMGNT1) ENSP00000361060.1:p.Met160TrpfsTer8
ENST00000396420.7:c.478del (POMGNT1) ENSP00000379698.3:p.Met160TrpfsTer8
ENST00000489985.1:n.711del (POMGNT1)
ENST00000497439.5:n.602del (POMGNT1)
NM_001243766.1:c.478del (POMGNT1) NP_001230695.1:p.Met160TrpfsTer8
NM_001290129.1:c.412del (POMGNT1) NP_001277058.1:p.Met138TrpfsTer8
NM_001290130.1:c.49del (POMGNT1) NP_001277059.1:p.Met17TrpfsTer8
NM_017739.3:c.478del (POMGNT1) NP_060209.3:p.Met160TrpfsTer8
XM_005271010.1:c.478del (POMGNT1) XP_005271067.1:p.Met160TrpfsTer8
XM_006710755.1:c.478del (POMGNT1) XP_006710818.1:p.Met160TrpfsTer8
XM_006710756.1:c.478del (POMGNT1) XP_006710819.1:p.Met160TrpfsTer8
XM_011540460.1:c.679-335del (TSPAN1) XP_011538762.1:n.679-335del
XM_011540461.1:c.634-335del (TSPAN1) XP_011538763.1:n.634-335del
XM_011541759.1:c.412del (POMGNT1) XP_011540061.1:p.Met138TrpfsTer8
XM_011541760.1:c.412del (POMGNT1) XP_011540062.1:p.Met138TrpfsTer8
XR_946706.1:n.637del (POMGNT1)
XM_011540460.3:c.679-335del (TSPAN1) XP_011538762.1:n.679-335del
XM_011541760.3:c.412del (POMGNT1) XP_011540062.1:p.Met138TrpfsTer8
XM_017001690.1:c.478del (POMGNT1) XP_016857179.1:p.Met160TrpfsTer8
NM_001243766.2:c.478del (POMGNT1) NP_001230695.2:p.Met160TrpfsTer8
NM_001290129.2:c.412del (POMGNT1) NP_001277058.2:p.Met138TrpfsTer8
NM_001290130.2:c.49del (POMGNT1) NP_001277059.2:p.Met17TrpfsTer8
NM_017739.4:c.478del (POMGNT1) MANE Select NP_060209.4:p.Met160TrpfsTer8