Canonical Allele Identifier: CA2645439863

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v4: 1-46190503-GCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190507_46190509del , CM000663.2:g.46190507_46190509del	GRCh38
NC_000001.10:g.46656179_46656181del , CM000663.1:g.46656179_46656181del	GRCh37
NC_000001.9:g.46428766_46428768del	NCBI36
NG_009205.2:g.34800_34802del
NG_009205.3:g.34800_34802del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1616_1618del (POMGNT1)	ENSP00000379698.4:p.Glu539del
ENST00000477114.2:n.2178_2180del (POMGNT1)
ENST00000497439.6:n.1788_1790del (POMGNT1)
ENST00000684817.1:n.1976_1978del (POMGNT1)
ENST00000684898.1:n.2178_2180del (POMGNT1)
ENST00000685230.1:c.*926_*928del (POMGNT1)	ENSP00000510305.1:n.*926_*928del
ENST00000685275.1:n.2163_2165del (POMGNT1)
ENST00000685444.1:c.1517_1519del (POMGNT1)	ENSP00000510762.1:p.Glu506del
ENST00000685704.1:n.2282_2284del (POMGNT1)
ENST00000685775.1:n.4658_4660del (POMGNT1)
ENST00000685833.1:n.4009_4011del (POMGNT1)
ENST00000686252.1:n.2690_2692del (POMGNT1)
ENST00000686379.1:c.*740_*742del (POMGNT1)	ENSP00000508913.1:n.*740_*742del
ENST00000686724.1:n.3303_3305del (POMGNT1)
ENST00000686737.1:c.1616_1618del (POMGNT1)	ENSP00000508736.1:p.Glu539del
ENST00000687112.1:n.2482_2484del (POMGNT1)
ENST00000687149.1:c.1655_1657del (POMGNT1)	ENSP00000509745.1:p.Glu552del
ENST00000687197.1:c.*556_*558del (POMGNT1)	ENSP00000510749.1:n.*556_*558del
ENST00000687235.1:n.3693_3695del (POMGNT1)
ENST00000687613.1:n.2290-517_2290-515del (POMGNT1)
ENST00000687683.1:c.1616_1618del (POMGNT1)	ENSP00000508522.1:p.Glu539del
ENST00000688032.1:n.2153_2155del (POMGNT1)
ENST00000688596.1:n.2267_2269del (POMGNT1)
ENST00000688608.1:c.1517_1519del (POMGNT1)	ENSP00000508890.1:p.Glu506del
ENST00000688919.1:n.3014_3016del (POMGNT1)
ENST00000689031.1:n.2102-517_2102-515del (POMGNT1)
ENST00000689717.1:n.1990_1992del (POMGNT1)
ENST00000689756.1:c.*1248_*1250del (POMGNT1)	ENSP00000509023.1:n.*1248_*1250del
ENST00000690377.1:n.1963_1965del (POMGNT1)
ENST00000690678.1:c.1616_1618del (POMGNT1)	ENSP00000508703.1:p.Glu539del
ENST00000691209.1:c.*556_*558del (POMGNT1)	ENSP00000510112.1:n.*556_*558del
ENST00000691243.1:c.*7_*9del (POMGNT1)	ENSP00000510654.1:n.*7_*9del
ENST00000692169.1:n.3280_3282del (POMGNT1)
ENST00000692202.1:n.2191_2193del (POMGNT1)
ENST00000692322.1:c.*1403_*1405del (POMGNT1)	ENSP00000509017.1:n.*1403_*1405del
ENST00000692369.1:c.1616_1618del (POMGNT1)	ENSP00000508453.1:p.Glu539del
ENST00000692599.1:n.3491_3493del (POMGNT1)
ENST00000692635.1:c.*491_*493del (POMGNT1)	ENSP00000508425.1:n.*491_*493del
ENST00000693168.1:n.3392_3394del (POMGNT1)
ENST00000693218.1:c.*177_*179del (POMGNT1)	ENSP00000510577.1:n.*177_*179del
ENST00000693223.1:n.2564_2566del (POMGNT1)
ENST00000693365.1:n.5765_5767del (POMGNT1)
ENST00000371984.8:c.1616_1618del (POMGNT1) MANE Select	ENSP00000361052.3:p.Glu539del
ENST00000371984.7:c.1616_1618del (POMGNT1)	ENSP00000361052.3:p.Glu539del
ENST00000371992.1:c.1616_1618del (POMGNT1)	ENSP00000361060.1:p.Glu539del
ENST00000396420.7:c.*1285_*1287del (POMGNT1)	ENSP00000379698.3:n.*1285_*1287del
ENST00000480972.1:n.265_267del (POMGNT1)
ENST00000485714.1:n.2517_2519del (POMGNT1)
NM_001243766.1:c.1616_1618del (POMGNT1)	NP_001230695.1:p.Glu539del
NM_001290129.1:c.1550_1552del (POMGNT1)	NP_001277058.1:p.Glu517del
NM_001290130.1:c.1187_1189del (POMGNT1)	NP_001277059.1:p.Glu396del
NM_017739.3:c.1616_1618del (POMGNT1)	NP_060209.3:p.Glu539del
XM_005271010.1:c.1616_1618del (POMGNT1)	XP_005271067.1:p.Glu539del
XM_006710755.1:c.1616_1618del (POMGNT1)	XP_006710818.1:p.Glu539del
XM_006710756.1:c.1616_1618del (POMGNT1)	XP_006710819.1:p.Glu539del
XM_011540460.1:c.678+5199_678+5201del (TSPAN1)	XP_011538762.1:n.678+5199_678+5201del
XM_011540461.1:c.633+5199_633+5201del (TSPAN1)	XP_011538763.1:n.633+5199_633+5201del
XM_011541759.1:c.1550_1552del (POMGNT1)	XP_011540061.1:p.Glu517del
XM_011541760.1:c.1550_1552del (POMGNT1)	XP_011540062.1:p.Glu517del
XM_011541761.1:c.524_526del (POMGNT1)	XP_011540063.1:p.Glu175del
XM_011540460.3:c.678+5199_678+5201del (TSPAN1)	XP_011538762.1:n.678+5199_678+5201del
XM_011541760.3:c.1550_1552del (POMGNT1)	XP_011540062.1:p.Glu517del
XM_017001690.1:c.1616_1618del (POMGNT1)	XP_016857179.1:p.Glu539del
NM_001243766.2:c.1616_1618del (POMGNT1)	NP_001230695.2:p.Glu539del
NM_001290129.2:c.1550_1552del (POMGNT1)	NP_001277058.2:p.Glu517del
NM_001290130.2:c.1187_1189del (POMGNT1)	NP_001277059.2:p.Glu396del
NM_017739.4:c.1616_1618del (POMGNT1) MANE Select	NP_060209.4:p.Glu539del