Canonical Allele Identifier: CA2645439491

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v4: 1-46190176-C-CTACT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190177_46190178insACTT , CM000663.2:g.46190177_46190178insACTT	GRCh38
NC_000001.10:g.46655849_46655850insACTT , CM000663.1:g.46655849_46655850insACTT	GRCh37
NC_000001.9:g.46428436_46428437insACTT	NCBI36
NG_009205.2:g.35129_35130insAGTA
NG_009205.3:g.35129_35130insAGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1650-188_1650-187insAGTA (POMGNT1)	ENSP00000379698.4:n.1650-188_1650-187insAGTA
ENST00000497439.6:n.1822-188_1822-187insAGTA (POMGNT1)
ENST00000684817.1:n.2010-188_2010-187insAGTA (POMGNT1)
ENST00000684898.1:n.2212-188_2212-187insAGTA (POMGNT1)
ENST00000685230.1:c.*960-188_*960-187insAGTA (POMGNT1)	ENSP00000510305.1:n.*960-188_*960-187insAGTA
ENST00000685275.1:n.2197-188_2197-187insAGTA (POMGNT1)
ENST00000685444.1:c.1551-188_1551-187insAGTA (POMGNT1)	ENSP00000510762.1:n.1551-188_1551-187insAGTA
ENST00000685704.1:n.2316-188_2316-187insAGTA (POMGNT1)
ENST00000685775.1:n.4987_4988insAGTA (POMGNT1)
ENST00000685833.1:n.4043-188_4043-187insAGTA (POMGNT1)
ENST00000686252.1:n.2724-188_2724-187insAGTA (POMGNT1)
ENST00000686379.1:c.*774-188_*774-187insAGTA (POMGNT1)	ENSP00000508913.1:n.*774-188_*774-187insAGTA
ENST00000686724.1:n.3337-188_3337-187insAGTA (POMGNT1)
ENST00000686737.1:c.1650-188_1650-187insAGTA (POMGNT1)	ENSP00000508736.1:n.1650-188_1650-187insAGTA
ENST00000687112.1:n.2516-188_2516-187insAGTA (POMGNT1)
ENST00000687149.1:c.1689-188_1689-187insAGTA (POMGNT1)	ENSP00000509745.1:n.1689-188_1689-187insAGTA
ENST00000687197.1:c.*590-188_*590-187insAGTA (POMGNT1)	ENSP00000510749.1:n.*590-188_*590-187insAGTA
ENST00000687235.1:n.3727-188_3727-187insAGTA (POMGNT1)
ENST00000687613.1:n.2290-188_2290-187insAGTA (POMGNT1)
ENST00000687683.1:c.1650-188_1650-187insAGTA (POMGNT1)	ENSP00000508522.1:n.1650-188_1650-187insAGTA
ENST00000688032.1:n.2187-188_2187-187insAGTA (POMGNT1)
ENST00000688596.1:n.2301-188_2301-187insAGTA (POMGNT1)
ENST00000688608.1:c.1551-188_1551-187insAGTA (POMGNT1)	ENSP00000508890.1:n.1551-188_1551-187insAGTA
ENST00000688919.1:n.3343_3344insAGTA (POMGNT1)
ENST00000689031.1:n.2102-188_2102-187insAGTA (POMGNT1)
ENST00000689717.1:n.2319_2320insAGTA (POMGNT1)
ENST00000689756.1:c.*1282-188_*1282-187insAGTA (POMGNT1)	ENSP00000509023.1:n.*1282-188_*1282-187insAGTA
ENST00000690377.1:n.1997-188_1997-187insAGTA (POMGNT1)
ENST00000690678.1:c.1650-188_1650-187insAGTA (POMGNT1)	ENSP00000508703.1:n.1650-188_1650-187insAGTA
ENST00000691209.1:c.*590-188_*590-187insAGTA (POMGNT1)	ENSP00000510112.1:n.*590-188_*590-187insAGTA
ENST00000691243.1:c.*41-188_*41-187insAGTA (POMGNT1)	ENSP00000510654.1:n.*41-188_*41-187insAGTA
ENST00000692202.1:n.2225-188_2225-187insAGTA (POMGNT1)
ENST00000692322.1:c.*1437-188_*1437-187insAGTA (POMGNT1)	ENSP00000509017.1:n.*1437-188_*1437-187insAGTA
ENST00000692369.1:c.1650-188_1650-187insAGTA (POMGNT1)	ENSP00000508453.1:n.1650-188_1650-187insAGTA
ENST00000692599.1:n.3525-188_3525-187insAGTA (POMGNT1)
ENST00000692635.1:c.*525-188_*525-187insAGTA (POMGNT1)	ENSP00000508425.1:n.*525-188_*525-187insAGTA
ENST00000693168.1:n.3426-188_3426-187insAGTA (POMGNT1)
ENST00000693218.1:c.*211-188_*211-187insAGTA (POMGNT1)	ENSP00000510577.1:n.*211-188_*211-187insAGTA
ENST00000693223.1:n.2598-188_2598-187insAGTA (POMGNT1)
ENST00000371984.8:c.1650-188_1650-187insAGTA (POMGNT1) MANE Select	ENSP00000361052.3:n.1650-188_1650-187insAGTA
ENST00000371984.7:c.1650-188_1650-187insAGTA (POMGNT1)	ENSP00000361052.3:n.1650-188_1650-187insAGTA
ENST00000371992.1:c.1650-188_1650-187insAGTA (POMGNT1)	ENSP00000361060.1:n.1650-188_1650-187insAGTA
ENST00000396420.7:c.*1319-188_*1319-187insAGTA (POMGNT1)	ENSP00000379698.3:n.*1319-188_*1319-187insAGTA
ENST00000480972.1:n.299-188_299-187insAGTA (POMGNT1)
ENST00000485714.1:n.2846_2847insAGTA (POMGNT1)
NM_001243766.1:c.1650-188_1650-187insAGTA (POMGNT1)	NP_001230695.1:n.1650-188_1650-187insAGTA
NM_001290129.1:c.1584-188_1584-187insAGTA (POMGNT1)	NP_001277058.1:n.1584-188_1584-187insAGTA
NM_001290130.1:c.1221-188_1221-187insAGTA (POMGNT1)	NP_001277059.1:n.1221-188_1221-187insAGTA
NM_017739.3:c.1650-188_1650-187insAGTA (POMGNT1)	NP_060209.3:n.1650-188_1650-187insAGTA
XM_005271010.1:c.1650-188_1650-187insAGTA (POMGNT1)	XP_005271067.1:n.1650-188_1650-187insAGTA
XM_006710755.1:c.1650-188_1650-187insAGTA (POMGNT1)	XP_006710818.1:n.1650-188_1650-187insAGTA
XM_006710756.1:c.1650-188_1650-187insAGTA (POMGNT1)	XP_006710819.1:n.1650-188_1650-187insAGTA
XM_011540460.1:c.678+4869_678+4870insACTT (TSPAN1)	XP_011538762.1:n.678+4869_678+4870insACTT
XM_011540461.1:c.633+4869_633+4870insACTT (TSPAN1)	XP_011538763.1:n.633+4869_633+4870insACTT
XM_011541759.1:c.1584-188_1584-187insAGTA (POMGNT1)	XP_011540061.1:n.1584-188_1584-187insAGTA
XM_011541760.1:c.1584-188_1584-187insAGTA (POMGNT1)	XP_011540062.1:n.1584-188_1584-187insAGTA
XM_011541761.1:c.558-188_558-187insAGTA (POMGNT1)	XP_011540063.1:n.558-188_558-187insAGTA
XM_011540460.3:c.678+4869_678+4870insACTT (TSPAN1)	XP_011538762.1:n.678+4869_678+4870insACTT
XM_011541760.3:c.1584-188_1584-187insAGTA (POMGNT1)	XP_011540062.1:n.1584-188_1584-187insAGTA
XM_017001690.1:c.1650-188_1650-187insAGTA (POMGNT1)	XP_016857179.1:n.1650-188_1650-187insAGTA
NM_001243766.2:c.1650-188_1650-187insAGTA (POMGNT1)	NP_001230695.2:n.1650-188_1650-187insAGTA
NM_001290129.2:c.1584-188_1584-187insAGTA (POMGNT1)	NP_001277058.2:n.1584-188_1584-187insAGTA
NM_001290130.2:c.1221-188_1221-187insAGTA (POMGNT1)	NP_001277059.2:n.1221-188_1221-187insAGTA
NM_017739.4:c.1650-188_1650-187insAGTA (POMGNT1) MANE Select	NP_060209.4:n.1650-188_1650-187insAGTA