Canonical Allele Identifier: CA2474081091

Gene: POMGNT1 TSPAN1

Linked Data

• dbSNP Id: rs1657602514
• gnomAD v4: 1-46189743-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189745_46189746del , CM000663.2:g.46189745_46189746del	GRCh38
NC_000001.10:g.46655417_46655418del , CM000663.1:g.46655417_46655418del	GRCh37
NC_000001.9:g.46428004_46428005del	NCBI36
NG_009205.2:g.35561_35562del
NG_009205.3:g.35561_35562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1785+109_1785+110del (POMGNT1)	ENSP00000379698.4:n.1785+109_1785+110del
ENST00000497439.6:n.1957+109_1957+110del (POMGNT1)
ENST00000684817.1:n.2145+109_2145+110del (POMGNT1)
ENST00000684898.1:n.2347+109_2347+110del (POMGNT1)
ENST00000685230.1:c.*1095+109_*1095+110del (POMGNT1)	ENSP00000510305.1:n.*1095+109_*1095+110del
ENST00000685275.1:n.2332+109_2332+110del (POMGNT1)
ENST00000685444.1:c.1686+109_1686+110del (POMGNT1)	ENSP00000510762.1:n.1686+109_1686+110del
ENST00000685704.1:n.2451+109_2451+110del (POMGNT1)
ENST00000685833.1:n.4178+109_4178+110del (POMGNT1)
ENST00000686252.1:n.2859+109_2859+110del (POMGNT1)
ENST00000686379.1:c.*909+109_*909+110del (POMGNT1)	ENSP00000508913.1:n.*909+109_*909+110del
ENST00000686724.1:n.3472+109_3472+110del (POMGNT1)
ENST00000686737.1:c.1785+109_1785+110del (POMGNT1)	ENSP00000508736.1:n.1785+109_1785+110del
ENST00000687112.1:n.2651+109_2651+110del (POMGNT1)
ENST00000687149.1:c.1824+109_1824+110del (POMGNT1)	ENSP00000509745.1:n.1824+109_1824+110del
ENST00000687197.1:c.*725+109_*725+110del (POMGNT1)	ENSP00000510749.1:n.*725+109_*725+110del
ENST00000687235.1:n.3862+109_3862+110del (POMGNT1)
ENST00000687613.1:n.2425+109_2425+110del (POMGNT1)
ENST00000687683.1:c.1785+109_1785+110del (POMGNT1)	ENSP00000508522.1:n.1785+109_1785+110del
ENST00000688032.1:n.2322+109_2322+110del (POMGNT1)
ENST00000688596.1:n.2436+109_2436+110del (POMGNT1)
ENST00000688608.1:c.1686+109_1686+110del (POMGNT1)	ENSP00000508890.1:n.1686+109_1686+110del
ENST00000689031.1:n.2237+109_2237+110del (POMGNT1)
ENST00000689756.1:c.*1417+109_*1417+110del (POMGNT1)	ENSP00000509023.1:n.*1417+109_*1417+110del
ENST00000690377.1:n.2132+109_2132+110del (POMGNT1)
ENST00000690678.1:c.1785+109_1785+110del (POMGNT1)	ENSP00000508703.1:n.1785+109_1785+110del
ENST00000691185.1:n.79_80del (POMGNT1)
ENST00000691209.1:c.*725+109_*725+110del (POMGNT1)	ENSP00000510112.1:n.*725+109_*725+110del
ENST00000691243.1:c.*176+109_*176+110del (POMGNT1)	ENSP00000510654.1:n.*176+109_*176+110del
ENST00000692202.1:n.2360+109_2360+110del (POMGNT1)
ENST00000692322.1:c.*1572+109_*1572+110del (POMGNT1)	ENSP00000509017.1:n.*1572+109_*1572+110del
ENST00000692369.1:c.1785+109_1785+110del (POMGNT1)	ENSP00000508453.1:n.1785+109_1785+110del
ENST00000692599.1:n.3660+109_3660+110del (POMGNT1)
ENST00000692635.1:c.*660+109_*660+110del (POMGNT1)	ENSP00000508425.1:n.*660+109_*660+110del
ENST00000693168.1:n.3561+109_3561+110del (POMGNT1)
ENST00000693218.1:c.*346+109_*346+110del (POMGNT1)	ENSP00000510577.1:n.*346+109_*346+110del
ENST00000693223.1:n.2733+109_2733+110del (POMGNT1)
ENST00000371984.8:c.1785+109_1785+110del (POMGNT1) MANE Select	ENSP00000361052.3:n.1785+109_1785+110del
ENST00000371984.7:c.1785+109_1785+110del (POMGNT1)	ENSP00000361052.3:n.1785+109_1785+110del
ENST00000371992.1:c.1785+109_1785+110del (POMGNT1)	ENSP00000361060.1:n.1785+109_1785+110del
ENST00000396420.7:c.*1454+109_*1454+110del (POMGNT1)	ENSP00000379698.3:n.*1454+109_*1454+110del
ENST00000480972.1:n.434+109_434+110del (POMGNT1)
NM_001243766.1:c.1785+109_1785+110del (POMGNT1)	NP_001230695.1:n.1785+109_1785+110del
NM_001290129.1:c.1719+109_1719+110del (POMGNT1)	NP_001277058.1:n.1719+109_1719+110del
NM_001290130.1:c.1356+109_1356+110del (POMGNT1)	NP_001277059.1:n.1356+109_1356+110del
NM_017739.3:c.1785+109_1785+110del (POMGNT1)	NP_060209.3:n.1785+109_1785+110del
XM_005271010.1:c.1785+109_1785+110del (POMGNT1)	XP_005271067.1:n.1785+109_1785+110del
XM_006710755.1:c.1785+109_1785+110del (POMGNT1)	XP_006710818.1:n.1785+109_1785+110del
XM_006710756.1:c.1785+109_1785+110del (POMGNT1)	XP_006710819.1:n.1785+109_1785+110del
XM_011540460.1:c.678+4437_678+4438del (TSPAN1)	XP_011538762.1:n.678+4437_678+4438del
XM_011540461.1:c.633+4437_633+4438del (TSPAN1)	XP_011538763.1:n.633+4437_633+4438del
XM_011541759.1:c.1719+109_1719+110del (POMGNT1)	XP_011540061.1:n.1719+109_1719+110del
XM_011541760.1:c.1719+109_1719+110del (POMGNT1)	XP_011540062.1:n.1719+109_1719+110del
XM_011541761.1:c.693+109_693+110del (POMGNT1)	XP_011540063.1:n.693+109_693+110del
XM_011540460.3:c.678+4437_678+4438del (TSPAN1)	XP_011538762.1:n.678+4437_678+4438del
XM_011541760.3:c.1719+109_1719+110del (POMGNT1)	XP_011540062.1:n.1719+109_1719+110del
XM_017001690.1:c.1785+109_1785+110del (POMGNT1)	XP_016857179.1:n.1785+109_1785+110del
NM_001243766.2:c.1785+109_1785+110del (POMGNT1)	NP_001230695.2:n.1785+109_1785+110del
NM_001290129.2:c.1719+109_1719+110del (POMGNT1)	NP_001277058.2:n.1719+109_1719+110del
NM_001290130.2:c.1356+109_1356+110del (POMGNT1)	NP_001277059.2:n.1356+109_1356+110del
NM_017739.4:c.1785+109_1785+110del (POMGNT1) MANE Select	NP_060209.4:n.1785+109_1785+110del