Canonical Allele Identifier: CA2695198021
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2677982
ClinVar RCV Id: RCV003471728

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46189956dup , CM000663.2:g.46189956dup GRCh38
NC_000001.10:g.46655628dup , CM000663.1:g.46655628dup GRCh37
NC_000001.9:g.46428215dup NCBI36
NG_009205.2:g.35351dup
NG_009205.3:g.35351dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1684dup (POMGNT1) ENSP00000379698.4:p.Cys562LeufsTer2
ENST00000497439.6:n.1856dup (POMGNT1)
ENST00000684817.1:n.2044dup (POMGNT1)
ENST00000684898.1:n.2246dup (POMGNT1)
ENST00000685230.1:c.*994dup (POMGNT1) ENSP00000510305.1:n.*994dup
ENST00000685275.1:n.2231dup (POMGNT1)
ENST00000685444.1:c.1585dup (POMGNT1) ENSP00000510762.1:p.Cys529LeufsTer2
ENST00000685704.1:n.2350dup (POMGNT1)
ENST00000685833.1:n.4077dup (POMGNT1)
ENST00000686252.1:n.2758dup (POMGNT1)
ENST00000686379.1:c.*808dup (POMGNT1) ENSP00000508913.1:n.*808dup
ENST00000686724.1:n.3371dup (POMGNT1)
ENST00000686737.1:c.1684dup (POMGNT1) ENSP00000508736.1:p.Cys562LeufsTer2
ENST00000687112.1:n.2550dup (POMGNT1)
ENST00000687149.1:c.1723dup (POMGNT1) ENSP00000509745.1:p.Cys575LeufsTer2
ENST00000687197.1:c.*624dup (POMGNT1) ENSP00000510749.1:n.*624dup
ENST00000687235.1:n.3761dup (POMGNT1)
ENST00000687613.1:n.2324dup (POMGNT1)
ENST00000687683.1:c.1684dup (POMGNT1) ENSP00000508522.1:p.Cys562LeufsTer2
ENST00000688032.1:n.2221dup (POMGNT1)
ENST00000688596.1:n.2335dup (POMGNT1)
ENST00000688608.1:c.1585dup (POMGNT1) ENSP00000508890.1:p.Cys529LeufsTer2
ENST00000689031.1:n.2136dup (POMGNT1)
ENST00000689756.1:c.*1316dup (POMGNT1) ENSP00000509023.1:n.*1316dup
ENST00000690377.1:n.2031dup (POMGNT1)
ENST00000690678.1:c.1684dup (POMGNT1) ENSP00000508703.1:p.Cys562LeufsTer2
ENST00000691209.1:c.*624dup (POMGNT1) ENSP00000510112.1:n.*624dup
ENST00000691243.1:c.*75dup (POMGNT1) ENSP00000510654.1:n.*75dup
ENST00000692202.1:n.2259dup (POMGNT1)
ENST00000692322.1:c.*1471dup (POMGNT1) ENSP00000509017.1:n.*1471dup
ENST00000692369.1:c.1684dup (POMGNT1) ENSP00000508453.1:p.Cys562LeufsTer2
ENST00000692599.1:n.3559dup (POMGNT1)
ENST00000692635.1:c.*559dup (POMGNT1) ENSP00000508425.1:n.*559dup
ENST00000693168.1:n.3460dup (POMGNT1)
ENST00000693218.1:c.*245dup (POMGNT1) ENSP00000510577.1:n.*245dup
ENST00000693223.1:n.2632dup (POMGNT1)
ENST00000371984.8:c.1684dup (POMGNT1) MANE Select ENSP00000361052.3:p.Cys562LeufsTer2
ENST00000371984.7:c.1684dup (POMGNT1) ENSP00000361052.3:p.Cys562LeufsTer2
ENST00000371992.1:c.1684dup (POMGNT1) ENSP00000361060.1:p.Cys562LeufsTer2
ENST00000396420.7:c.*1353dup (POMGNT1) ENSP00000379698.3:n.*1353dup
ENST00000480972.1:n.333dup (POMGNT1)
NM_001243766.1:c.1684dup (POMGNT1) NP_001230695.1:p.Cys562LeufsTer2
NM_001290129.1:c.1618dup (POMGNT1) NP_001277058.1:p.Cys540LeufsTer2
NM_001290130.1:c.1255dup (POMGNT1) NP_001277059.1:p.Cys419LeufsTer2
NM_017739.3:c.1684dup (POMGNT1) NP_060209.3:p.Cys562LeufsTer2
XM_005271010.1:c.1684dup (POMGNT1) XP_005271067.1:p.Cys562LeufsTer2
XM_006710755.1:c.1684dup (POMGNT1) XP_006710818.1:p.Cys562LeufsTer2
XM_006710756.1:c.1684dup (POMGNT1) XP_006710819.1:p.Cys562LeufsTer2
XM_011540460.1:c.678+4648dup (TSPAN1) XP_011538762.1:n.678+4648dup
XM_011540461.1:c.633+4648dup (TSPAN1) XP_011538763.1:n.633+4648dup
XM_011541759.1:c.1618dup (POMGNT1) XP_011540061.1:p.Cys540LeufsTer2
XM_011541760.1:c.1618dup (POMGNT1) XP_011540062.1:p.Cys540LeufsTer2
XM_011541761.1:c.592dup (POMGNT1) XP_011540063.1:p.Cys198LeufsTer2
XM_011540460.3:c.678+4648dup (TSPAN1) XP_011538762.1:n.678+4648dup
XM_011541760.3:c.1618dup (POMGNT1) XP_011540062.1:p.Cys540LeufsTer2
XM_017001690.1:c.1684dup (POMGNT1) XP_016857179.1:p.Cys562LeufsTer2
NM_001243766.2:c.1684dup (POMGNT1) NP_001230695.2:p.Cys562LeufsTer2
NM_001290129.2:c.1618dup (POMGNT1) NP_001277058.2:p.Cys540LeufsTer2
NM_001290130.2:c.1255dup (POMGNT1) NP_001277059.2:p.Cys419LeufsTer2
NM_017739.4:c.1684dup (POMGNT1) MANE Select NP_060209.4:p.Cys562LeufsTer2