Canonical Allele Identifier: CA2645440739

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v4: 1-46191741-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46191744_46191746del , CM000663.2:g.46191744_46191746del	GRCh38
NC_000001.10:g.46657416_46657418del , CM000663.1:g.46657416_46657418del	GRCh37
NC_000001.9:g.46430003_46430005del	NCBI36
NG_009205.2:g.33562_33564del
NG_009205.3:g.33562_33564del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1539+354_1539+356del (POMGNT1)	ENSP00000379698.4:n.1539+354_1539+356del
ENST00000477114.2:n.2101+354_2101+356del (POMGNT1)
ENST00000497439.6:n.1711+354_1711+356del (POMGNT1)
ENST00000684817.1:n.1899+354_1899+356del (POMGNT1)
ENST00000684898.1:n.2101+354_2101+356del (POMGNT1)
ENST00000685230.1:c.*849+354_*849+356del (POMGNT1)	ENSP00000510305.1:n.*849+354_*849+356del
ENST00000685275.1:n.2086+354_2086+356del (POMGNT1)
ENST00000685444.1:c.1440+354_1440+356del (POMGNT1)	ENSP00000510762.1:n.1440+354_1440+356del
ENST00000685704.1:n.2101+354_2101+356del (POMGNT1)
ENST00000685775.1:n.3420_3422del (POMGNT1)
ENST00000685833.1:n.2771_2773del (POMGNT1)
ENST00000686252.1:n.2613+354_2613+356del (POMGNT1)
ENST00000686379.1:c.*663+354_*663+356del (POMGNT1)	ENSP00000508913.1:n.*663+354_*663+356del
ENST00000686724.1:n.2065_2067del (POMGNT1)
ENST00000686737.1:c.1539+354_1539+356del (POMGNT1)	ENSP00000508736.1:n.1539+354_1539+356del
ENST00000687112.1:n.2405+354_2405+356del (POMGNT1)
ENST00000687149.1:c.1539+354_1539+356del (POMGNT1)	ENSP00000509745.1:n.1539+354_1539+356del
ENST00000687197.1:c.*479+354_*479+356del (POMGNT1)	ENSP00000510749.1:n.*479+354_*479+356del
ENST00000687235.1:n.2455_2457del (POMGNT1)
ENST00000687613.1:n.2289+354_2289+356del (POMGNT1)
ENST00000687683.1:c.1539+354_1539+356del (POMGNT1)	ENSP00000508522.1:n.1539+354_1539+356del
ENST00000688032.1:n.2101+354_2101+356del (POMGNT1)
ENST00000688596.1:n.2190+354_2190+356del (POMGNT1)
ENST00000688608.1:c.1440+354_1440+356del (POMGNT1)	ENSP00000508890.1:n.1440+354_1440+356del
ENST00000688919.1:n.2735+354_2735+356del (POMGNT1)
ENST00000689031.1:n.2101+354_2101+356del (POMGNT1)
ENST00000689717.1:n.1711+354_1711+356del (POMGNT1)
ENST00000689756.1:c.*1171+354_*1171+356del (POMGNT1)	ENSP00000509023.1:n.*1171+354_*1171+356del
ENST00000690377.1:n.1886+354_1886+356del (POMGNT1)
ENST00000690678.1:c.1539+354_1539+356del (POMGNT1)	ENSP00000508703.1:n.1539+354_1539+356del
ENST00000691209.1:c.*479+354_*479+356del (POMGNT1)	ENSP00000510112.1:n.*479+354_*479+356del
ENST00000691243.1:c.1539+354_1539+356del (POMGNT1)	ENSP00000510654.1:n.1539+354_1539+356del
ENST00000692169.1:n.2042_2044del (POMGNT1)
ENST00000692202.1:n.2114+354_2114+356del (POMGNT1)
ENST00000692322.1:c.*1391+354_*1391+356del (POMGNT1)	ENSP00000509017.1:n.*1391+354_*1391+356del
ENST00000692369.1:c.1539+354_1539+356del (POMGNT1)	ENSP00000508453.1:n.1539+354_1539+356del
ENST00000692599.1:n.2455_2457del (POMGNT1)
ENST00000692635.1:c.*479+354_*479+356del (POMGNT1)	ENSP00000508425.1:n.*479+354_*479+356del
ENST00000693168.1:n.2154_2156del (POMGNT1)
ENST00000693218.1:c.1539+354_1539+356del (POMGNT1)	ENSP00000510577.1:n.1539+354_1539+356del
ENST00000693223.1:n.2487+354_2487+356del (POMGNT1)
ENST00000693365.1:n.4527_4529del (POMGNT1)
ENST00000371984.8:c.1539+354_1539+356del (POMGNT1) MANE Select	ENSP00000361052.3:n.1539+354_1539+356del
ENST00000371984.7:c.1539+354_1539+356del (POMGNT1)	ENSP00000361052.3:n.1539+354_1539+356del
ENST00000371992.1:c.1539+354_1539+356del (POMGNT1)	ENSP00000361060.1:n.1539+354_1539+356del
ENST00000396420.7:c.*1208+354_*1208+356del (POMGNT1)	ENSP00000379698.3:n.*1208+354_*1208+356del
ENST00000463030.1:n.514_516del (POMGNT1)
ENST00000485714.1:n.1279_1281del (POMGNT1)
NM_001243766.1:c.1539+354_1539+356del (POMGNT1)	NP_001230695.1:n.1539+354_1539+356del
NM_001290129.1:c.1473+354_1473+356del (POMGNT1)	NP_001277058.1:n.1473+354_1473+356del
NM_001290130.1:c.1110+354_1110+356del (POMGNT1)	NP_001277059.1:n.1110+354_1110+356del
NM_017739.3:c.1539+354_1539+356del (POMGNT1)	NP_060209.3:n.1539+354_1539+356del
XM_005271010.1:c.1539+354_1539+356del (POMGNT1)	XP_005271067.1:n.1539+354_1539+356del
XM_006710755.1:c.1539+354_1539+356del (POMGNT1)	XP_006710818.1:n.1539+354_1539+356del
XM_006710756.1:c.1539+354_1539+356del (POMGNT1)	XP_006710819.1:n.1539+354_1539+356del
XM_011540460.1:c.679-4458_679-4456del (TSPAN1)	XP_011538762.1:n.679-4458_679-4456del
XM_011540461.1:c.634-4458_634-4456del (TSPAN1)	XP_011538763.1:n.634-4458_634-4456del
XM_011541759.1:c.1473+354_1473+356del (POMGNT1)	XP_011540061.1:n.1473+354_1473+356del
XM_011541760.1:c.1473+354_1473+356del (POMGNT1)	XP_011540062.1:n.1473+354_1473+356del
XM_011541761.1:c.447+354_447+356del (POMGNT1)	XP_011540063.1:n.447+354_447+356del
XM_011540460.3:c.679-4458_679-4456del (TSPAN1)	XP_011538762.1:n.679-4458_679-4456del
XM_011541760.3:c.1473+354_1473+356del (POMGNT1)	XP_011540062.1:n.1473+354_1473+356del
XM_017001690.1:c.1539+354_1539+356del (POMGNT1)	XP_016857179.1:n.1539+354_1539+356del
NM_001243766.2:c.1539+354_1539+356del (POMGNT1)	NP_001230695.2:n.1539+354_1539+356del
NM_001290129.2:c.1473+354_1473+356del (POMGNT1)	NP_001277058.2:n.1473+354_1473+356del
NM_001290130.2:c.1110+354_1110+356del (POMGNT1)	NP_001277059.2:n.1110+354_1110+356del
NM_017739.4:c.1539+354_1539+356del (POMGNT1) MANE Select	NP_060209.4:n.1539+354_1539+356del