Canonical Allele Identifier: CA3054216684
Community Standard Title: NC_000001.11:g.46190517_46190518delinsCG
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46190517_46190518delinsCG , CM000663.2:g.46190517_46190518delinsCG GRCh38
NC_000001.10:g.46656189_46656190delinsCG , CM000663.1:g.46656189_46656190delinsCG GRCh37
NC_000001.9:g.46428776_46428777delinsCG NCBI36
NG_009205.2:g.34788_34789delinsCG
NG_009205.3:g.34788_34789delinsCG

Transcript Alleles

HGVS Amino-acid Change
NM_001243766.1:c.1605-1_1605delinsCG (POMGNT1)
NM_001243766.2:c.1605-1_1605delinsCG (POMGNT1)
NM_001290129.1:c.1539-1_1539delinsCG (POMGNT1)
NM_001290129.2:c.1539-1_1539delinsCG (POMGNT1)
NM_001290130.1:c.1176-1_1176delinsCG (POMGNT1)
NM_001290130.2:c.1176-1_1176delinsCG (POMGNT1)
NM_017739.3:c.1605-1_1605delinsCG (POMGNT1)
NM_017739.4:c.1605-1_1605delinsCG (POMGNT1)
ENST00000371984.7:c.1605-1_1605delinsCG (POMGNT1)
ENST00000371984.8:c.1605-1_1605delinsCG (POMGNT1)
ENST00000371992.1:c.1605-1_1605delinsCG (POMGNT1)
ENST00000396420.7:c.*1274-1_*1274delinsCG (POMGNT1)
ENST00000396420.8:c.1605-1_1605delinsCG (POMGNT1)
ENST00000477114.2:n.2167-1_2167delinsCG (POMGNT1)
ENST00000480972.1:n.254-1_254delinsCG (POMGNT1)
ENST00000485714.1:n.2505_2506delinsCG (POMGNT1)
ENST00000497439.6:n.1777-1_1777delinsCG (POMGNT1)
ENST00000684817.1:n.1965-1_1965delinsCG (POMGNT1)
ENST00000684898.1:n.2167-1_2167delinsCG (POMGNT1)
ENST00000685230.1:c.*915-1_*915delinsCG (POMGNT1)
ENST00000685275.1:n.2152-1_2152delinsCG (POMGNT1)
ENST00000685444.1:c.1506-1_1506delinsCG (POMGNT1)
ENST00000685704.1:n.2270_2271delinsCG (POMGNT1)
ENST00000685775.1:n.4646_4647delinsCG (POMGNT1)
ENST00000685833.1:n.3997_3998delinsCG (POMGNT1)
ENST00000686252.1:n.2679-1_2679delinsCG (POMGNT1)
ENST00000686379.1:c.*729-1_*729delinsCG (POMGNT1)
ENST00000686724.1:n.3291_3292delinsCG (POMGNT1)
ENST00000686737.1:c.1605-1_1605delinsCG (POMGNT1)
ENST00000687112.1:n.2471-1_2471delinsCG (POMGNT1)
ENST00000687149.1:c.1643_1644delinsCG (POMGNT1) ENSP00000509745.1:p.Ser548Thr
ENST00000687197.1:c.*545-1_*545delinsCG (POMGNT1)
ENST00000687235.1:n.3681_3682delinsCG (POMGNT1)
ENST00000687613.1:n.2290-529_2290-528delinsCG (POMGNT1)
ENST00000687683.1:c.1605-1_1605delinsCG (POMGNT1)
ENST00000688032.1:n.2142-1_2142delinsCG (POMGNT1)
ENST00000688596.1:n.2256-1_2256delinsCG (POMGNT1)
ENST00000688608.1:c.1506-1_1506delinsCG (POMGNT1)
ENST00000688919.1:n.3002_3003delinsCG (POMGNT1)
ENST00000689031.1:n.2102-529_2102-528delinsCG (POMGNT1)
ENST00000689717.1:n.1978_1979delinsCG (POMGNT1)
ENST00000689756.1:c.*1237-1_*1237delinsCG (POMGNT1)
ENST00000690377.1:n.1952-1_1952delinsCG (POMGNT1)
ENST00000690678.1:c.1605-1_1605delinsCG (POMGNT1)
ENST00000691209.1:c.*545-1_*545delinsCG (POMGNT1)
ENST00000691243.1:c.1580-1_1580delinsCG (POMGNT1)
ENST00000692169.1:n.3268_3269delinsCG (POMGNT1)
ENST00000692202.1:n.2180-1_2180delinsCG (POMGNT1)
ENST00000692322.1:c.*1392-1_*1392delinsCG (POMGNT1)
ENST00000692369.1:c.1605-1_1605delinsCG (POMGNT1)
ENST00000692599.1:n.3480-1_3480delinsCG (POMGNT1)
ENST00000692635.1:c.*480-1_*480delinsCG (POMGNT1)
ENST00000693168.1:n.3380_3381delinsCG (POMGNT1)
ENST00000693218.1:c.*165_*166delinsCG (POMGNT1) ENSP00000510577.1:n.*165_*166delinsCG
ENST00000693223.1:n.2553-1_2553delinsCG (POMGNT1)
ENST00000693365.1:n.5753_5754delinsCG (POMGNT1)
XM_005271010.1:c.1605-1_1605delinsCG (POMGNT1)
XM_006710755.1:c.1605-1_1605delinsCG (POMGNT1)
XM_006710756.1:c.1605-1_1605delinsCG (POMGNT1)
XM_011540460.1:c.678+5209_678+5210delinsCG (TSPAN1) XP_011538762.1:n.678+5209_678+5210delinsCG
XM_011540460.3:c.678+5209_678+5210delinsCG (TSPAN1) XP_011538762.1:n.678+5209_678+5210delinsCG
XM_011540461.1:c.633+5209_633+5210delinsCG (TSPAN1) XP_011538763.1:n.633+5209_633+5210delinsCG
XM_011541759.1:c.1539-1_1539delinsCG (POMGNT1)
XM_011541760.1:c.1539-1_1539delinsCG (POMGNT1)
XM_011541760.3:c.1539-1_1539delinsCG (POMGNT1)
XM_011541761.1:c.513-1_513delinsCG (POMGNT1)
XM_017001690.1:c.1605-1_1605delinsCG (POMGNT1)