Canonical Allele Identifier: CA2695198022

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 2677972
• ClinVar RCV Id: RCV003463346

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190518_46190521del , CM000663.2:g.46190518_46190521del	GRCh38
NC_000001.10:g.46656190_46656193del , CM000663.1:g.46656190_46656193del	GRCh37
NC_000001.9:g.46428777_46428780del	NCBI36
NG_009205.2:g.34787_34790del
NG_009205.3:g.34787_34790del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1605-2_1606del (POMGNT1)
ENST00000477114.2:n.2167-2_2168del (POMGNT1)
ENST00000497439.6:n.1777-2_1778del (POMGNT1)
ENST00000684817.1:n.1965-2_1966del (POMGNT1)
ENST00000684898.1:n.2167-2_2168del (POMGNT1)
ENST00000685230.1:c.*915-2_*916del (POMGNT1)
ENST00000685275.1:n.2152-2_2153del (POMGNT1)
ENST00000685444.1:c.1506-2_1507del (POMGNT1)
ENST00000685704.1:n.2269_2272del (POMGNT1)
ENST00000685775.1:n.4645_4648del (POMGNT1)
ENST00000685833.1:n.3996_3999del (POMGNT1)
ENST00000686252.1:n.2679-2_2680del (POMGNT1)
ENST00000686379.1:c.*729-2_*730del (POMGNT1)
ENST00000686724.1:n.3290_3293del (POMGNT1)
ENST00000686737.1:c.1605-2_1606del (POMGNT1)
ENST00000687112.1:n.2471-2_2472del (POMGNT1)
ENST00000687149.1:c.1642_1645del (POMGNT1)	ENSP00000509745.1:p.Ser548Ter
ENST00000687197.1:c.*545-2_*546del (POMGNT1)
ENST00000687235.1:n.3680_3683del (POMGNT1)
ENST00000687613.1:n.2290-530_2290-527del (POMGNT1)
ENST00000687683.1:c.1605-2_1606del (POMGNT1)
ENST00000688032.1:n.2142-2_2143del (POMGNT1)
ENST00000688596.1:n.2256-2_2257del (POMGNT1)
ENST00000688608.1:c.1506-2_1507del (POMGNT1)
ENST00000688919.1:n.3001_3004del (POMGNT1)
ENST00000689031.1:n.2102-530_2102-527del (POMGNT1)
ENST00000689717.1:n.1977_1980del (POMGNT1)
ENST00000689756.1:c.*1237-2_*1238del (POMGNT1)
ENST00000690377.1:n.1952-2_1953del (POMGNT1)
ENST00000690678.1:c.1605-2_1606del (POMGNT1)
ENST00000691209.1:c.*545-2_*546del (POMGNT1)
ENST00000691243.1:c.1580-2_1581del (POMGNT1)
ENST00000692169.1:n.3267_3270del (POMGNT1)
ENST00000692202.1:n.2180-2_2181del (POMGNT1)
ENST00000692322.1:c.*1392-2_*1393del (POMGNT1)
ENST00000692369.1:c.1605-2_1606del (POMGNT1)
ENST00000692599.1:n.3480-2_3481del (POMGNT1)
ENST00000692635.1:c.*480-2_*481del (POMGNT1)
ENST00000693168.1:n.3379_3382del (POMGNT1)
ENST00000693218.1:c.*164_*167del (POMGNT1)	ENSP00000510577.1:n.*164_*167del
ENST00000693223.1:n.2553-2_2554del (POMGNT1)
ENST00000693365.1:n.5752_5755del (POMGNT1)
ENST00000371984.8:c.1605-2_1606del (POMGNT1)
ENST00000371984.7:c.1605-2_1606del (POMGNT1)
ENST00000371992.1:c.1605-2_1606del (POMGNT1)
ENST00000396420.7:c.*1274-2_*1275del (POMGNT1)
ENST00000480972.1:n.254-2_255del (POMGNT1)
ENST00000485714.1:n.2504_2507del (POMGNT1)
NM_001243766.1:c.1605-2_1606del (POMGNT1)
NM_001290129.1:c.1539-2_1540del (POMGNT1)
NM_001290130.1:c.1176-2_1177del (POMGNT1)
NM_017739.3:c.1605-2_1606del (POMGNT1)
XM_005271010.1:c.1605-2_1606del (POMGNT1)
XM_006710755.1:c.1605-2_1606del (POMGNT1)
XM_006710756.1:c.1605-2_1606del (POMGNT1)
XM_011540460.1:c.678+5210_678+5213del (TSPAN1)	XP_011538762.1:n.678+5210_678+5213del
XM_011540461.1:c.633+5210_633+5213del (TSPAN1)	XP_011538763.1:n.633+5210_633+5213del
XM_011541759.1:c.1539-2_1540del (POMGNT1)
XM_011541760.1:c.1539-2_1540del (POMGNT1)
XM_011541761.1:c.513-2_514del (POMGNT1)
XM_011540460.3:c.678+5210_678+5213del (TSPAN1)	XP_011538762.1:n.678+5210_678+5213del
XM_011541760.3:c.1539-2_1540del (POMGNT1)
XM_017001690.1:c.1605-2_1606del (POMGNT1)
NM_001243766.2:c.1605-2_1606del (POMGNT1)
NM_001290129.2:c.1539-2_1540del (POMGNT1)
NM_001290130.2:c.1176-2_1177del (POMGNT1)
NM_017739.4:c.1605-2_1606del (POMGNT1)