Canonical Allele Identifier: CA2645439352

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v4: 1-46190092-A-AATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190093_46190094insTTTA , CM000663.2:g.46190093_46190094insTTTA	GRCh38
NC_000001.10:g.46655765_46655766insTTTA , CM000663.1:g.46655765_46655766insTTTA	GRCh37
NC_000001.9:g.46428352_46428353insTTTA	NCBI36
NG_009205.2:g.35213_35214insAAAT
NG_009205.3:g.35213_35214insAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1650-104_1650-103insAAAT (POMGNT1)	ENSP00000379698.4:n.1650-104_1650-103insAAAT
ENST00000497439.6:n.1822-104_1822-103insAAAT (POMGNT1)
ENST00000684817.1:n.2010-104_2010-103insAAAT (POMGNT1)
ENST00000684898.1:n.2212-104_2212-103insAAAT (POMGNT1)
ENST00000685230.1:c.*960-104_*960-103insAAAT (POMGNT1)	ENSP00000510305.1:n.*960-104_*960-103insAAAT
ENST00000685275.1:n.2197-104_2197-103insAAAT (POMGNT1)
ENST00000685444.1:c.1551-104_1551-103insAAAT (POMGNT1)	ENSP00000510762.1:n.1551-104_1551-103insAAAT
ENST00000685704.1:n.2316-104_2316-103insAAAT (POMGNT1)
ENST00000685833.1:n.4043-104_4043-103insAAAT (POMGNT1)
ENST00000686252.1:n.2724-104_2724-103insAAAT (POMGNT1)
ENST00000686379.1:c.*774-104_*774-103insAAAT (POMGNT1)	ENSP00000508913.1:n.*774-104_*774-103insAAAT
ENST00000686724.1:n.3337-104_3337-103insAAAT (POMGNT1)
ENST00000686737.1:c.1650-104_1650-103insAAAT (POMGNT1)	ENSP00000508736.1:n.1650-104_1650-103insAAAT
ENST00000687112.1:n.2516-104_2516-103insAAAT (POMGNT1)
ENST00000687149.1:c.1689-104_1689-103insAAAT (POMGNT1)	ENSP00000509745.1:n.1689-104_1689-103insAAAT
ENST00000687197.1:c.*590-104_*590-103insAAAT (POMGNT1)	ENSP00000510749.1:n.*590-104_*590-103insAAAT
ENST00000687235.1:n.3727-104_3727-103insAAAT (POMGNT1)
ENST00000687613.1:n.2290-104_2290-103insAAAT (POMGNT1)
ENST00000687683.1:c.1650-104_1650-103insAAAT (POMGNT1)	ENSP00000508522.1:n.1650-104_1650-103insAAAT
ENST00000688032.1:n.2187-104_2187-103insAAAT (POMGNT1)
ENST00000688596.1:n.2301-104_2301-103insAAAT (POMGNT1)
ENST00000688608.1:c.1551-104_1551-103insAAAT (POMGNT1)	ENSP00000508890.1:n.1551-104_1551-103insAAAT
ENST00000689031.1:n.2102-104_2102-103insAAAT (POMGNT1)
ENST00000689756.1:c.*1282-104_*1282-103insAAAT (POMGNT1)	ENSP00000509023.1:n.*1282-104_*1282-103insAAAT
ENST00000690377.1:n.1997-104_1997-103insAAAT (POMGNT1)
ENST00000690678.1:c.1650-104_1650-103insAAAT (POMGNT1)	ENSP00000508703.1:n.1650-104_1650-103insAAAT
ENST00000691209.1:c.*590-104_*590-103insAAAT (POMGNT1)	ENSP00000510112.1:n.*590-104_*590-103insAAAT
ENST00000691243.1:c.*41-104_*41-103insAAAT (POMGNT1)	ENSP00000510654.1:n.*41-104_*41-103insAAAT
ENST00000692202.1:n.2225-104_2225-103insAAAT (POMGNT1)
ENST00000692322.1:c.*1437-104_*1437-103insAAAT (POMGNT1)	ENSP00000509017.1:n.*1437-104_*1437-103insAAAT
ENST00000692369.1:c.1650-104_1650-103insAAAT (POMGNT1)	ENSP00000508453.1:n.1650-104_1650-103insAAAT
ENST00000692599.1:n.3525-104_3525-103insAAAT (POMGNT1)
ENST00000692635.1:c.*525-104_*525-103insAAAT (POMGNT1)	ENSP00000508425.1:n.*525-104_*525-103insAAAT
ENST00000693168.1:n.3426-104_3426-103insAAAT (POMGNT1)
ENST00000693218.1:c.*211-104_*211-103insAAAT (POMGNT1)	ENSP00000510577.1:n.*211-104_*211-103insAAAT
ENST00000693223.1:n.2598-104_2598-103insAAAT (POMGNT1)
ENST00000371984.8:c.1650-104_1650-103insAAAT (POMGNT1) MANE Select	ENSP00000361052.3:n.1650-104_1650-103insAAAT
ENST00000371984.7:c.1650-104_1650-103insAAAT (POMGNT1)	ENSP00000361052.3:n.1650-104_1650-103insAAAT
ENST00000371992.1:c.1650-104_1650-103insAAAT (POMGNT1)	ENSP00000361060.1:n.1650-104_1650-103insAAAT
ENST00000396420.7:c.*1319-104_*1319-103insAAAT (POMGNT1)	ENSP00000379698.3:n.*1319-104_*1319-103insAAAT
ENST00000480972.1:n.299-104_299-103insAAAT (POMGNT1)
NM_001243766.1:c.1650-104_1650-103insAAAT (POMGNT1)	NP_001230695.1:n.1650-104_1650-103insAAAT
NM_001290129.1:c.1584-104_1584-103insAAAT (POMGNT1)	NP_001277058.1:n.1584-104_1584-103insAAAT
NM_001290130.1:c.1221-104_1221-103insAAAT (POMGNT1)	NP_001277059.1:n.1221-104_1221-103insAAAT
NM_017739.3:c.1650-104_1650-103insAAAT (POMGNT1)	NP_060209.3:n.1650-104_1650-103insAAAT
XM_005271010.1:c.1650-104_1650-103insAAAT (POMGNT1)	XP_005271067.1:n.1650-104_1650-103insAAAT
XM_006710755.1:c.1650-104_1650-103insAAAT (POMGNT1)	XP_006710818.1:n.1650-104_1650-103insAAAT
XM_006710756.1:c.1650-104_1650-103insAAAT (POMGNT1)	XP_006710819.1:n.1650-104_1650-103insAAAT
XM_011540460.1:c.678+4785_678+4786insTTTA (TSPAN1)	XP_011538762.1:n.678+4785_678+4786insTTTA
XM_011540461.1:c.633+4785_633+4786insTTTA (TSPAN1)	XP_011538763.1:n.633+4785_633+4786insTTTA
XM_011541759.1:c.1584-104_1584-103insAAAT (POMGNT1)	XP_011540061.1:n.1584-104_1584-103insAAAT
XM_011541760.1:c.1584-104_1584-103insAAAT (POMGNT1)	XP_011540062.1:n.1584-104_1584-103insAAAT
XM_011541761.1:c.558-104_558-103insAAAT (POMGNT1)	XP_011540063.1:n.558-104_558-103insAAAT
XM_011540460.3:c.678+4785_678+4786insTTTA (TSPAN1)	XP_011538762.1:n.678+4785_678+4786insTTTA
XM_011541760.3:c.1584-104_1584-103insAAAT (POMGNT1)	XP_011540062.1:n.1584-104_1584-103insAAAT
XM_017001690.1:c.1650-104_1650-103insAAAT (POMGNT1)	XP_016857179.1:n.1650-104_1650-103insAAAT
NM_001243766.2:c.1650-104_1650-103insAAAT (POMGNT1)	NP_001230695.2:n.1650-104_1650-103insAAAT
NM_001290129.2:c.1584-104_1584-103insAAAT (POMGNT1)	NP_001277058.2:n.1584-104_1584-103insAAAT
NM_001290130.2:c.1221-104_1221-103insAAAT (POMGNT1)	NP_001277059.2:n.1221-104_1221-103insAAAT
NM_017739.4:c.1650-104_1650-103insAAAT (POMGNT1) MANE Select	NP_060209.4:n.1650-104_1650-103insAAAT