Canonical Allele Identifier: CA2474081127

Gene: POMGNT1 TSPAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189834_46189835delinsTG , CM000663.2:g.46189834_46189835delinsTG	GRCh38
NC_000001.10:g.46655506_46655507delinsTG , CM000663.1:g.46655506_46655507delinsTG	GRCh37
NC_000001.9:g.46428093_46428094delinsTG	NCBI36
NG_009205.2:g.35471_35472delinsCA
NG_009205.3:g.35471_35472delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1785+19_1785+20delinsCA (POMGNT1)	ENSP00000379698.4:n.1785+19_1785+20delinsCA
ENST00000497439.6:n.1957+19_1957+20delinsCA (POMGNT1)
ENST00000684817.1:n.2145+19_2145+20delinsCA (POMGNT1)
ENST00000684898.1:n.2347+19_2347+20delinsCA (POMGNT1)
ENST00000685230.1:c.*1095+19_*1095+20delinsCA (POMGNT1)	ENSP00000510305.1:n.*1095+19_*1095+20delinsCA
ENST00000685275.1:n.2332+19_2332+20delinsCA (POMGNT1)
ENST00000685444.1:c.1686+19_1686+20delinsCA (POMGNT1)	ENSP00000510762.1:n.1686+19_1686+20delinsCA
ENST00000685704.1:n.2451+19_2451+20delinsCA (POMGNT1)
ENST00000685833.1:n.4178+19_4178+20delinsCA (POMGNT1)
ENST00000686252.1:n.2859+19_2859+20delinsCA (POMGNT1)
ENST00000686379.1:c.*909+19_*909+20delinsCA (POMGNT1)	ENSP00000508913.1:n.*909+19_*909+20delinsCA
ENST00000686724.1:n.3472+19_3472+20delinsCA (POMGNT1)
ENST00000686737.1:c.1785+19_1785+20delinsCA (POMGNT1)	ENSP00000508736.1:n.1785+19_1785+20delinsCA
ENST00000687112.1:n.2651+19_2651+20delinsCA (POMGNT1)
ENST00000687149.1:c.1824+19_1824+20delinsCA (POMGNT1)	ENSP00000509745.1:n.1824+19_1824+20delinsCA
ENST00000687197.1:c.*725+19_*725+20delinsCA (POMGNT1)	ENSP00000510749.1:n.*725+19_*725+20delinsCA
ENST00000687235.1:n.3862+19_3862+20delinsCA (POMGNT1)
ENST00000687613.1:n.2425+19_2425+20delinsCA (POMGNT1)
ENST00000687683.1:c.1785+19_1785+20delinsCA (POMGNT1)	ENSP00000508522.1:n.1785+19_1785+20delinsCA
ENST00000688032.1:n.2322+19_2322+20delinsCA (POMGNT1)
ENST00000688596.1:n.2436+19_2436+20delinsCA (POMGNT1)
ENST00000688608.1:c.1686+19_1686+20delinsCA (POMGNT1)	ENSP00000508890.1:n.1686+19_1686+20delinsCA
ENST00000689031.1:n.2237+19_2237+20delinsCA (POMGNT1)
ENST00000689756.1:c.*1417+19_*1417+20delinsCA (POMGNT1)	ENSP00000509023.1:n.*1417+19_*1417+20delinsCA
ENST00000690377.1:n.2132+19_2132+20delinsCA (POMGNT1)
ENST00000690678.1:c.1785+19_1785+20delinsCA (POMGNT1)	ENSP00000508703.1:n.1785+19_1785+20delinsCA
ENST00000691209.1:c.*725+19_*725+20delinsCA (POMGNT1)	ENSP00000510112.1:n.*725+19_*725+20delinsCA
ENST00000691243.1:c.*176+19_*176+20delinsCA (POMGNT1)	ENSP00000510654.1:n.*176+19_*176+20delinsCA
ENST00000692202.1:n.2360+19_2360+20delinsCA (POMGNT1)
ENST00000692322.1:c.*1572+19_*1572+20delinsCA (POMGNT1)	ENSP00000509017.1:n.*1572+19_*1572+20delinsCA
ENST00000692369.1:c.1785+19_1785+20delinsCA (POMGNT1)	ENSP00000508453.1:n.1785+19_1785+20delinsCA
ENST00000692599.1:n.3660+19_3660+20delinsCA (POMGNT1)
ENST00000692635.1:c.*660+19_*660+20delinsCA (POMGNT1)	ENSP00000508425.1:n.*660+19_*660+20delinsCA
ENST00000693168.1:n.3561+19_3561+20delinsCA (POMGNT1)
ENST00000693218.1:c.*346+19_*346+20delinsCA (POMGNT1)	ENSP00000510577.1:n.*346+19_*346+20delinsCA
ENST00000693223.1:n.2733+19_2733+20delinsCA (POMGNT1)
ENST00000371984.8:c.1785+19_1785+20delinsCA (POMGNT1) MANE Select	ENSP00000361052.3:n.1785+19_1785+20delinsCA
ENST00000371984.7:c.1785+19_1785+20delinsCA (POMGNT1)	ENSP00000361052.3:n.1785+19_1785+20delinsCA
ENST00000371992.1:c.1785+19_1785+20delinsCA (POMGNT1)	ENSP00000361060.1:n.1785+19_1785+20delinsCA
ENST00000396420.7:c.*1454+19_*1454+20delinsCA (POMGNT1)	ENSP00000379698.3:n.*1454+19_*1454+20delinsCA
ENST00000480972.1:n.434+19_434+20delinsCA (POMGNT1)
NM_001243766.1:c.1785+19_1785+20delinsCA (POMGNT1)	NP_001230695.1:n.1785+19_1785+20delinsCA
NM_001290129.1:c.1719+19_1719+20delinsCA (POMGNT1)	NP_001277058.1:n.1719+19_1719+20delinsCA
NM_001290130.1:c.1356+19_1356+20delinsCA (POMGNT1)	NP_001277059.1:n.1356+19_1356+20delinsCA
NM_017739.3:c.1785+19_1785+20delinsCA (POMGNT1)	NP_060209.3:n.1785+19_1785+20delinsCA
XM_005271010.1:c.1785+19_1785+20delinsCA (POMGNT1)	XP_005271067.1:n.1785+19_1785+20delinsCA
XM_006710755.1:c.1785+19_1785+20delinsCA (POMGNT1)	XP_006710818.1:n.1785+19_1785+20delinsCA
XM_006710756.1:c.1785+19_1785+20delinsCA (POMGNT1)	XP_006710819.1:n.1785+19_1785+20delinsCA
XM_011540460.1:c.678+4526_678+4527delinsTG (TSPAN1)	XP_011538762.1:n.678+4526_678+4527delinsTG
XM_011540461.1:c.633+4526_633+4527delinsTG (TSPAN1)	XP_011538763.1:n.633+4526_633+4527delinsTG
XM_011541759.1:c.1719+19_1719+20delinsCA (POMGNT1)	XP_011540061.1:n.1719+19_1719+20delinsCA
XM_011541760.1:c.1719+19_1719+20delinsCA (POMGNT1)	XP_011540062.1:n.1719+19_1719+20delinsCA
XM_011541761.1:c.693+19_693+20delinsCA (POMGNT1)	XP_011540063.1:n.693+19_693+20delinsCA
XM_011540460.3:c.678+4526_678+4527delinsTG (TSPAN1)	XP_011538762.1:n.678+4526_678+4527delinsTG
XM_011541760.3:c.1719+19_1719+20delinsCA (POMGNT1)	XP_011540062.1:n.1719+19_1719+20delinsCA
XM_017001690.1:c.1785+19_1785+20delinsCA (POMGNT1)	XP_016857179.1:n.1785+19_1785+20delinsCA
NM_001243766.2:c.1785+19_1785+20delinsCA (POMGNT1)	NP_001230695.2:n.1785+19_1785+20delinsCA
NM_001290129.2:c.1719+19_1719+20delinsCA (POMGNT1)	NP_001277058.2:n.1719+19_1719+20delinsCA
NM_001290130.2:c.1356+19_1356+20delinsCA (POMGNT1)	NP_001277059.2:n.1356+19_1356+20delinsCA
NM_017739.4:c.1785+19_1785+20delinsCA (POMGNT1) MANE Select	NP_060209.4:n.1785+19_1785+20delinsCA