Canonical Allele Identifier: CA2645441182

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v4: 1-46192218-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192219_46192220del , CM000663.2:g.46192219_46192220del	GRCh38
NC_000001.10:g.46657891_46657892del , CM000663.1:g.46657891_46657892del	GRCh37
NC_000001.9:g.46430478_46430479del	NCBI36
NG_009205.2:g.33086_33087del
NG_009205.3:g.33086_33087del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1417_1418del (POMGNT1)	ENSP00000379698.4:p.Trp473GlyfsTer10
ENST00000477114.2:n.1979_1980del (POMGNT1)
ENST00000497439.6:n.1589_1590del (POMGNT1)
ENST00000684817.1:n.1777_1778del (POMGNT1)
ENST00000684898.1:n.1979_1980del (POMGNT1)
ENST00000685230.1:c.*727_*728del (POMGNT1)	ENSP00000510305.1:n.*727_*728del
ENST00000685275.1:n.1964_1965del (POMGNT1)
ENST00000685444.1:c.1318_1319del (POMGNT1)	ENSP00000510762.1:p.Trp440GlyfsTer10
ENST00000685704.1:n.1979_1980del (POMGNT1)
ENST00000685775.1:n.2944_2945del (POMGNT1)
ENST00000685833.1:n.2295_2296del (POMGNT1)
ENST00000686252.1:n.2491_2492del (POMGNT1)
ENST00000686379.1:c.*541_*542del (POMGNT1)	ENSP00000508913.1:n.*541_*542del
ENST00000686724.1:n.1589_1590del (POMGNT1)
ENST00000686737.1:c.1417_1418del (POMGNT1)	ENSP00000508736.1:p.Trp473GlyfsTer10
ENST00000687112.1:n.2283_2284del (POMGNT1)
ENST00000687149.1:c.1417_1418del (POMGNT1)	ENSP00000509745.1:p.Trp473GlyfsTer10
ENST00000687197.1:c.*357_*358del (POMGNT1)	ENSP00000510749.1:n.*357_*358del
ENST00000687235.1:n.1979_1980del (POMGNT1)
ENST00000687613.1:n.2167_2168del (POMGNT1)
ENST00000687683.1:c.1417_1418del (POMGNT1)	ENSP00000508522.1:p.Trp473GlyfsTer10
ENST00000688032.1:n.1979_1980del (POMGNT1)
ENST00000688596.1:n.2068_2069del (POMGNT1)
ENST00000688608.1:c.1318_1319del (POMGNT1)	ENSP00000508890.1:p.Trp440GlyfsTer10
ENST00000688919.1:n.2613_2614del (POMGNT1)
ENST00000689031.1:n.1979_1980del (POMGNT1)
ENST00000689717.1:n.1589_1590del (POMGNT1)
ENST00000689756.1:c.*1049_*1050del (POMGNT1)	ENSP00000509023.1:n.*1049_*1050del
ENST00000690377.1:n.1764_1765del (POMGNT1)
ENST00000690678.1:c.1417_1418del (POMGNT1)	ENSP00000508703.1:p.Trp473GlyfsTer10
ENST00000691209.1:c.*357_*358del (POMGNT1)	ENSP00000510112.1:n.*357_*358del
ENST00000691243.1:c.1417_1418del (POMGNT1)	ENSP00000510654.1:p.Trp473GlyfsTer10
ENST00000692169.1:n.1566_1567del (POMGNT1)
ENST00000692202.1:n.1992_1993del (POMGNT1)
ENST00000692322.1:c.*1269_*1270del (POMGNT1)	ENSP00000509017.1:n.*1269_*1270del
ENST00000692369.1:c.1417_1418del (POMGNT1)	ENSP00000508453.1:p.Trp473GlyfsTer10
ENST00000692599.1:n.1979_1980del (POMGNT1)
ENST00000692635.1:c.*357_*358del (POMGNT1)	ENSP00000508425.1:n.*357_*358del
ENST00000693168.1:n.1678_1679del (POMGNT1)
ENST00000693218.1:c.1417_1418del (POMGNT1)	ENSP00000510577.1:p.Trp473GlyfsTer10
ENST00000693223.1:n.2365_2366del (POMGNT1)
ENST00000693365.1:n.4051_4052del (POMGNT1)
ENST00000371984.8:c.1417_1418del (POMGNT1) MANE Select	ENSP00000361052.3:p.Trp473GlyfsTer10
ENST00000371984.7:c.1417_1418del (POMGNT1)	ENSP00000361052.3:p.Trp473GlyfsTer10
ENST00000371992.1:c.1417_1418del (POMGNT1)	ENSP00000361060.1:p.Trp473GlyfsTer10
ENST00000396420.7:c.*1086_*1087del (POMGNT1)	ENSP00000379698.3:n.*1086_*1087del
ENST00000463030.1:n.38_39del (POMGNT1)
ENST00000485714.1:n.803_804del (POMGNT1)
NM_001243766.1:c.1417_1418del (POMGNT1)	NP_001230695.1:p.Trp473GlyfsTer10
NM_001290129.1:c.1351_1352del (POMGNT1)	NP_001277058.1:p.Trp451GlyfsTer10
NM_001290130.1:c.988_989del (POMGNT1)	NP_001277059.1:p.Trp330GlyfsTer10
NM_017739.3:c.1417_1418del (POMGNT1)	NP_060209.3:p.Trp473GlyfsTer10
XM_005271010.1:c.1417_1418del (POMGNT1)	XP_005271067.1:p.Trp473GlyfsTer10
XM_006710755.1:c.1417_1418del (POMGNT1)	XP_006710818.1:p.Trp473GlyfsTer10
XM_006710756.1:c.1417_1418del (POMGNT1)	XP_006710819.1:p.Trp473GlyfsTer10
XM_011540460.1:c.679-3983_679-3982del (TSPAN1)	XP_011538762.1:n.679-3983_679-3982del
XM_011540461.1:c.634-3983_634-3982del (TSPAN1)	XP_011538763.1:n.634-3983_634-3982del
XM_011541759.1:c.1351_1352del (POMGNT1)	XP_011540061.1:p.Trp451GlyfsTer10
XM_011541760.1:c.1351_1352del (POMGNT1)	XP_011540062.1:p.Trp451GlyfsTer10
XM_011541761.1:c.325_326del (POMGNT1)	XP_011540063.1:p.Trp109GlyfsTer10
XR_946706.1:n.1577_1578del (POMGNT1)
XM_011540460.3:c.679-3983_679-3982del (TSPAN1)	XP_011538762.1:n.679-3983_679-3982del
XM_011541760.3:c.1351_1352del (POMGNT1)	XP_011540062.1:p.Trp451GlyfsTer10
XM_017001690.1:c.1417_1418del (POMGNT1)	XP_016857179.1:p.Trp473GlyfsTer10
NM_001243766.2:c.1417_1418del (POMGNT1)	NP_001230695.2:p.Trp473GlyfsTer10
NM_001290129.2:c.1351_1352del (POMGNT1)	NP_001277058.2:p.Trp451GlyfsTer10
NM_001290130.2:c.988_989del (POMGNT1)	NP_001277059.2:p.Trp330GlyfsTer10
NM_017739.4:c.1417_1418del (POMGNT1) MANE Select	NP_060209.4:p.Trp473GlyfsTer10