Canonical Allele Identifier: CA2474081397
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Linked Data

dbSNP Id: rs1657677396

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46190482_46190518del , CM000663.2:g.46190482_46190518del GRCh38
NC_000001.10:g.46656154_46656190del , CM000663.1:g.46656154_46656190del GRCh37
NC_000001.9:g.46428741_46428777del NCBI36
NG_009205.2:g.34789_34825del
NG_009205.3:g.34789_34825del

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1605_1641del (POMGNT1)
ENST00000477114.2:n.2167_2203del (POMGNT1)
ENST00000497439.6:n.1777_1813del (POMGNT1)
ENST00000684817.1:n.1965_2001del (POMGNT1)
ENST00000684898.1:n.2167_2203del (POMGNT1)
ENST00000685230.1:c.*915_*951del (POMGNT1)
ENST00000685275.1:n.2152_2188del (POMGNT1)
ENST00000685444.1:c.1506_1542del (POMGNT1)
ENST00000685704.1:n.2271_2307del (POMGNT1)
ENST00000685775.1:n.4647_4683del (POMGNT1)
ENST00000685833.1:n.3998_4034del (POMGNT1)
ENST00000686252.1:n.2679_2715del (POMGNT1)
ENST00000686379.1:c.*729_*765del (POMGNT1)
ENST00000686724.1:n.3292_3328del (POMGNT1)
ENST00000686737.1:c.1605_1641del (POMGNT1)
ENST00000687112.1:n.2471_2507del (POMGNT1)
ENST00000687149.1:c.1644_1680del (POMGNT1) ENSP00000509745.1:p.Leu549CysfsTer?
ENST00000687197.1:c.*545_*581del (POMGNT1)
ENST00000687235.1:n.3682_3718del (POMGNT1)
ENST00000687613.1:n.2290-528_2290-492del (POMGNT1)
ENST00000687683.1:c.1605_1641del (POMGNT1)
ENST00000688032.1:n.2142_2178del (POMGNT1)
ENST00000688596.1:n.2256_2292del (POMGNT1)
ENST00000688608.1:c.1506_1542del (POMGNT1)
ENST00000688919.1:n.3003_3039del (POMGNT1)
ENST00000689031.1:n.2102-528_2102-492del (POMGNT1)
ENST00000689717.1:n.1979_2015del (POMGNT1)
ENST00000689756.1:c.*1237_*1273del (POMGNT1)
ENST00000690377.1:n.1952_1988del (POMGNT1)
ENST00000690678.1:c.1605_1641del (POMGNT1)
ENST00000691209.1:c.*545_*581del (POMGNT1)
ENST00000691243.1:c.1580_*32del (POMGNT1)
ENST00000692169.1:n.3269_3305del (POMGNT1)
ENST00000692202.1:n.2180_2216del (POMGNT1)
ENST00000692322.1:c.*1392_*1428del (POMGNT1)
ENST00000692369.1:c.1605_1641del (POMGNT1)
ENST00000692599.1:n.3480_3516del (POMGNT1)
ENST00000692635.1:c.*480_*516del (POMGNT1)
ENST00000693168.1:n.3381_3417del (POMGNT1)
ENST00000693218.1:c.*166_*202del (POMGNT1) ENSP00000510577.1:n.*166_*202del
ENST00000693223.1:n.2553_2589del (POMGNT1)
ENST00000693365.1:n.5754_5790del (POMGNT1)
ENST00000371984.8:c.1605_1641del (POMGNT1)
ENST00000371984.7:c.1605_1641del (POMGNT1)
ENST00000371992.1:c.1605_1641del (POMGNT1)
ENST00000396420.7:c.*1274_*1310del (POMGNT1)
ENST00000480972.1:n.254_290del (POMGNT1)
ENST00000485714.1:n.2506_2542del (POMGNT1)
NM_001243766.1:c.1605_1641del (POMGNT1)
NM_001290129.1:c.1539_1575del (POMGNT1)
NM_001290130.1:c.1176_1212del (POMGNT1)
NM_017739.3:c.1605_1641del (POMGNT1)
XM_005271010.1:c.1605_1641del (POMGNT1)
XM_006710755.1:c.1605_1641del (POMGNT1)
XM_006710756.1:c.1605_1641del (POMGNT1)
XM_011540460.1:c.678+5174_678+5210del (TSPAN1) XP_011538762.1:n.678+5174_678+5210del
XM_011540461.1:c.633+5174_633+5210del (TSPAN1) XP_011538763.1:n.633+5174_633+5210del
XM_011541759.1:c.1539_1575del (POMGNT1)
XM_011541760.1:c.1539_1575del (POMGNT1)
XM_011541761.1:c.513_549del (POMGNT1)
XM_011540460.3:c.678+5174_678+5210del (TSPAN1) XP_011538762.1:n.678+5174_678+5210del
XM_011541760.3:c.1539_1575del (POMGNT1)
XM_017001690.1:c.1605_1641del (POMGNT1)
NM_001243766.2:c.1605_1641del (POMGNT1)
NM_001290129.2:c.1539_1575del (POMGNT1)
NM_001290130.2:c.1176_1212del (POMGNT1)
NM_017739.4:c.1605_1641del (POMGNT1)