Canonical Allele Identifier: CA2645439377

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v4: 1-46190095-T-TTA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46190096_46190097insAT , CM000663.2:g.46190096_46190097insAT	GRCh38
NC_000001.10:g.46655768_46655769insAT , CM000663.1:g.46655768_46655769insAT	GRCh37
NC_000001.9:g.46428355_46428356insAT	NCBI36
NG_009205.2:g.35210_35211insTA
NG_009205.3:g.35210_35211insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1650-107_1650-106insTA (POMGNT1)	ENSP00000379698.4:n.1650-107_1650-106insTA
ENST00000497439.6:n.1822-107_1822-106insTA (POMGNT1)
ENST00000684817.1:n.2010-107_2010-106insTA (POMGNT1)
ENST00000684898.1:n.2212-107_2212-106insTA (POMGNT1)
ENST00000685230.1:c.*960-107_*960-106insTA (POMGNT1)	ENSP00000510305.1:n.*960-107_*960-106insTA
ENST00000685275.1:n.2197-107_2197-106insTA (POMGNT1)
ENST00000685444.1:c.1551-107_1551-106insTA (POMGNT1)	ENSP00000510762.1:n.1551-107_1551-106insTA
ENST00000685704.1:n.2316-107_2316-106insTA (POMGNT1)
ENST00000685833.1:n.4043-107_4043-106insTA (POMGNT1)
ENST00000686252.1:n.2724-107_2724-106insTA (POMGNT1)
ENST00000686379.1:c.*774-107_*774-106insTA (POMGNT1)	ENSP00000508913.1:n.*774-107_*774-106insTA
ENST00000686724.1:n.3337-107_3337-106insTA (POMGNT1)
ENST00000686737.1:c.1650-107_1650-106insTA (POMGNT1)	ENSP00000508736.1:n.1650-107_1650-106insTA
ENST00000687112.1:n.2516-107_2516-106insTA (POMGNT1)
ENST00000687149.1:c.1689-107_1689-106insTA (POMGNT1)	ENSP00000509745.1:n.1689-107_1689-106insTA
ENST00000687197.1:c.*590-107_*590-106insTA (POMGNT1)	ENSP00000510749.1:n.*590-107_*590-106insTA
ENST00000687235.1:n.3727-107_3727-106insTA (POMGNT1)
ENST00000687613.1:n.2290-107_2290-106insTA (POMGNT1)
ENST00000687683.1:c.1650-107_1650-106insTA (POMGNT1)	ENSP00000508522.1:n.1650-107_1650-106insTA
ENST00000688032.1:n.2187-107_2187-106insTA (POMGNT1)
ENST00000688596.1:n.2301-107_2301-106insTA (POMGNT1)
ENST00000688608.1:c.1551-107_1551-106insTA (POMGNT1)	ENSP00000508890.1:n.1551-107_1551-106insTA
ENST00000689031.1:n.2102-107_2102-106insTA (POMGNT1)
ENST00000689756.1:c.*1282-107_*1282-106insTA (POMGNT1)	ENSP00000509023.1:n.*1282-107_*1282-106insTA
ENST00000690377.1:n.1997-107_1997-106insTA (POMGNT1)
ENST00000690678.1:c.1650-107_1650-106insTA (POMGNT1)	ENSP00000508703.1:n.1650-107_1650-106insTA
ENST00000691209.1:c.*590-107_*590-106insTA (POMGNT1)	ENSP00000510112.1:n.*590-107_*590-106insTA
ENST00000691243.1:c.*41-107_*41-106insTA (POMGNT1)	ENSP00000510654.1:n.*41-107_*41-106insTA
ENST00000692202.1:n.2225-107_2225-106insTA (POMGNT1)
ENST00000692322.1:c.*1437-107_*1437-106insTA (POMGNT1)	ENSP00000509017.1:n.*1437-107_*1437-106insTA
ENST00000692369.1:c.1650-107_1650-106insTA (POMGNT1)	ENSP00000508453.1:n.1650-107_1650-106insTA
ENST00000692599.1:n.3525-107_3525-106insTA (POMGNT1)
ENST00000692635.1:c.*525-107_*525-106insTA (POMGNT1)	ENSP00000508425.1:n.*525-107_*525-106insTA
ENST00000693168.1:n.3426-107_3426-106insTA (POMGNT1)
ENST00000693218.1:c.*211-107_*211-106insTA (POMGNT1)	ENSP00000510577.1:n.*211-107_*211-106insTA
ENST00000693223.1:n.2598-107_2598-106insTA (POMGNT1)
ENST00000371984.8:c.1650-107_1650-106insTA (POMGNT1) MANE Select	ENSP00000361052.3:n.1650-107_1650-106insTA
ENST00000371984.7:c.1650-107_1650-106insTA (POMGNT1)	ENSP00000361052.3:n.1650-107_1650-106insTA
ENST00000371992.1:c.1650-107_1650-106insTA (POMGNT1)	ENSP00000361060.1:n.1650-107_1650-106insTA
ENST00000396420.7:c.*1319-107_*1319-106insTA (POMGNT1)	ENSP00000379698.3:n.*1319-107_*1319-106insTA
ENST00000480972.1:n.299-107_299-106insTA (POMGNT1)
NM_001243766.1:c.1650-107_1650-106insTA (POMGNT1)	NP_001230695.1:n.1650-107_1650-106insTA
NM_001290129.1:c.1584-107_1584-106insTA (POMGNT1)	NP_001277058.1:n.1584-107_1584-106insTA
NM_001290130.1:c.1221-107_1221-106insTA (POMGNT1)	NP_001277059.1:n.1221-107_1221-106insTA
NM_017739.3:c.1650-107_1650-106insTA (POMGNT1)	NP_060209.3:n.1650-107_1650-106insTA
XM_005271010.1:c.1650-107_1650-106insTA (POMGNT1)	XP_005271067.1:n.1650-107_1650-106insTA
XM_006710755.1:c.1650-107_1650-106insTA (POMGNT1)	XP_006710818.1:n.1650-107_1650-106insTA
XM_006710756.1:c.1650-107_1650-106insTA (POMGNT1)	XP_006710819.1:n.1650-107_1650-106insTA
XM_011540460.1:c.678+4788_678+4789insAT (TSPAN1)	XP_011538762.1:n.678+4788_678+4789insAT
XM_011540461.1:c.633+4788_633+4789insAT (TSPAN1)	XP_011538763.1:n.633+4788_633+4789insAT
XM_011541759.1:c.1584-107_1584-106insTA (POMGNT1)	XP_011540061.1:n.1584-107_1584-106insTA
XM_011541760.1:c.1584-107_1584-106insTA (POMGNT1)	XP_011540062.1:n.1584-107_1584-106insTA
XM_011541761.1:c.558-107_558-106insTA (POMGNT1)	XP_011540063.1:n.558-107_558-106insTA
XM_011540460.3:c.678+4788_678+4789insAT (TSPAN1)	XP_011538762.1:n.678+4788_678+4789insAT
XM_011541760.3:c.1584-107_1584-106insTA (POMGNT1)	XP_011540062.1:n.1584-107_1584-106insTA
XM_017001690.1:c.1650-107_1650-106insTA (POMGNT1)	XP_016857179.1:n.1650-107_1650-106insTA
NM_001243766.2:c.1650-107_1650-106insTA (POMGNT1)	NP_001230695.2:n.1650-107_1650-106insTA
NM_001290129.2:c.1584-107_1584-106insTA (POMGNT1)	NP_001277058.2:n.1584-107_1584-106insTA
NM_001290130.2:c.1221-107_1221-106insTA (POMGNT1)	NP_001277059.2:n.1221-107_1221-106insTA
NM_017739.4:c.1650-107_1650-106insTA (POMGNT1) MANE Select	NP_060209.4:n.1650-107_1650-106insTA