Canonical Allele Identifier: CA1001299612

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v3: 1-46190097-C-CTTTTTTTTT
• gnomAD v4: 1-46190097-C-CTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190108_46190116dup , CM000663.2:g.46190108_46190116dup	GRCh38
NC_000001.10:g.46655780_46655788dup , CM000663.1:g.46655780_46655788dup	GRCh37
NC_000001.9:g.46428367_46428375dup	NCBI36
NG_009205.2:g.35200_35208dup
NG_009205.3:g.35200_35208dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1650-117_1650-109dup (POMGNT1)	ENSP00000379698.4:n.1650-117_1650-109dup
ENST00000497439.6:n.1822-117_1822-109dup (POMGNT1)
ENST00000684817.1:n.2010-117_2010-109dup (POMGNT1)
ENST00000684898.1:n.2212-117_2212-109dup (POMGNT1)
ENST00000685230.1:c.*960-117_*960-109dup (POMGNT1)	ENSP00000510305.1:n.*960-117_*960-109dup
ENST00000685275.1:n.2197-117_2197-109dup (POMGNT1)
ENST00000685444.1:c.1551-117_1551-109dup (POMGNT1)	ENSP00000510762.1:n.1551-117_1551-109dup
ENST00000685704.1:n.2316-117_2316-109dup (POMGNT1)
ENST00000685833.1:n.4043-117_4043-109dup (POMGNT1)
ENST00000686252.1:n.2724-117_2724-109dup (POMGNT1)
ENST00000686379.1:c.*774-117_*774-109dup (POMGNT1)	ENSP00000508913.1:n.*774-117_*774-109dup
ENST00000686724.1:n.3337-117_3337-109dup (POMGNT1)
ENST00000686737.1:c.1650-117_1650-109dup (POMGNT1)	ENSP00000508736.1:n.1650-117_1650-109dup
ENST00000687112.1:n.2516-117_2516-109dup (POMGNT1)
ENST00000687149.1:c.1689-117_1689-109dup (POMGNT1)	ENSP00000509745.1:n.1689-117_1689-109dup
ENST00000687197.1:c.*590-117_*590-109dup (POMGNT1)	ENSP00000510749.1:n.*590-117_*590-109dup
ENST00000687235.1:n.3727-117_3727-109dup (POMGNT1)
ENST00000687613.1:n.2290-117_2290-109dup (POMGNT1)
ENST00000687683.1:c.1650-117_1650-109dup (POMGNT1)	ENSP00000508522.1:n.1650-117_1650-109dup
ENST00000688032.1:n.2187-117_2187-109dup (POMGNT1)
ENST00000688596.1:n.2301-117_2301-109dup (POMGNT1)
ENST00000688608.1:c.1551-117_1551-109dup (POMGNT1)	ENSP00000508890.1:n.1551-117_1551-109dup
ENST00000689031.1:n.2102-117_2102-109dup (POMGNT1)
ENST00000689756.1:c.*1282-117_*1282-109dup (POMGNT1)	ENSP00000509023.1:n.*1282-117_*1282-109dup
ENST00000690377.1:n.1997-117_1997-109dup (POMGNT1)
ENST00000690678.1:c.1650-117_1650-109dup (POMGNT1)	ENSP00000508703.1:n.1650-117_1650-109dup
ENST00000691209.1:c.*590-117_*590-109dup (POMGNT1)	ENSP00000510112.1:n.*590-117_*590-109dup
ENST00000691243.1:c.*41-117_*41-109dup (POMGNT1)	ENSP00000510654.1:n.*41-117_*41-109dup
ENST00000692202.1:n.2225-117_2225-109dup (POMGNT1)
ENST00000692322.1:c.*1437-117_*1437-109dup (POMGNT1)	ENSP00000509017.1:n.*1437-117_*1437-109dup
ENST00000692369.1:c.1650-117_1650-109dup (POMGNT1)	ENSP00000508453.1:n.1650-117_1650-109dup
ENST00000692599.1:n.3525-117_3525-109dup (POMGNT1)
ENST00000692635.1:c.*525-117_*525-109dup (POMGNT1)	ENSP00000508425.1:n.*525-117_*525-109dup
ENST00000693168.1:n.3426-117_3426-109dup (POMGNT1)
ENST00000693218.1:c.*211-117_*211-109dup (POMGNT1)	ENSP00000510577.1:n.*211-117_*211-109dup
ENST00000693223.1:n.2598-117_2598-109dup (POMGNT1)
ENST00000371984.8:c.1650-117_1650-109dup (POMGNT1) MANE Select	ENSP00000361052.3:n.1650-117_1650-109dup
ENST00000371984.7:c.1650-117_1650-109dup (POMGNT1)	ENSP00000361052.3:n.1650-117_1650-109dup
ENST00000371992.1:c.1650-117_1650-109dup (POMGNT1)	ENSP00000361060.1:n.1650-117_1650-109dup
ENST00000396420.7:c.*1319-117_*1319-109dup (POMGNT1)	ENSP00000379698.3:n.*1319-117_*1319-109dup
ENST00000480972.1:n.299-117_299-109dup (POMGNT1)
NM_001243766.1:c.1650-117_1650-109dup (POMGNT1)	NP_001230695.1:n.1650-117_1650-109dup
NM_001290129.1:c.1584-117_1584-109dup (POMGNT1)	NP_001277058.1:n.1584-117_1584-109dup
NM_001290130.1:c.1221-117_1221-109dup (POMGNT1)	NP_001277059.1:n.1221-117_1221-109dup
NM_017739.3:c.1650-117_1650-109dup (POMGNT1)	NP_060209.3:n.1650-117_1650-109dup
XM_005271010.1:c.1650-117_1650-109dup (POMGNT1)	XP_005271067.1:n.1650-117_1650-109dup
XM_006710755.1:c.1650-117_1650-109dup (POMGNT1)	XP_006710818.1:n.1650-117_1650-109dup
XM_006710756.1:c.1650-117_1650-109dup (POMGNT1)	XP_006710819.1:n.1650-117_1650-109dup
XM_011540460.1:c.678+4800_678+4808dup (TSPAN1)	XP_011538762.1:n.678+4800_678+4808dup
XM_011540461.1:c.633+4800_633+4808dup (TSPAN1)	XP_011538763.1:n.633+4800_633+4808dup
XM_011541759.1:c.1584-117_1584-109dup (POMGNT1)	XP_011540061.1:n.1584-117_1584-109dup
XM_011541760.1:c.1584-117_1584-109dup (POMGNT1)	XP_011540062.1:n.1584-117_1584-109dup
XM_011541761.1:c.558-117_558-109dup (POMGNT1)	XP_011540063.1:n.558-117_558-109dup
XM_011540460.3:c.678+4800_678+4808dup (TSPAN1)	XP_011538762.1:n.678+4800_678+4808dup
XM_011541760.3:c.1584-117_1584-109dup (POMGNT1)	XP_011540062.1:n.1584-117_1584-109dup
XM_017001690.1:c.1650-117_1650-109dup (POMGNT1)	XP_016857179.1:n.1650-117_1650-109dup
NM_001243766.2:c.1650-117_1650-109dup (POMGNT1)	NP_001230695.2:n.1650-117_1650-109dup
NM_001290129.2:c.1584-117_1584-109dup (POMGNT1)	NP_001277058.2:n.1584-117_1584-109dup
NM_001290130.2:c.1221-117_1221-109dup (POMGNT1)	NP_001277059.2:n.1221-117_1221-109dup
NM_017739.4:c.1650-117_1650-109dup (POMGNT1) MANE Select	NP_060209.4:n.1650-117_1650-109dup