Canonical Allele Identifier: CA2645440907

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v4: 1-46191864-GACCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46191865_46191869del , CM000663.2:g.46191865_46191869del	GRCh38
NC_000001.10:g.46657537_46657541del , CM000663.1:g.46657537_46657541del	GRCh37
NC_000001.9:g.46430124_46430128del	NCBI36
NG_009205.2:g.33437_33441del
NG_009205.3:g.33437_33441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1539+229_1539+233del (POMGNT1)	ENSP00000379698.4:n.1539+229_1539+233del
ENST00000477114.2:n.2101+229_2101+233del (POMGNT1)
ENST00000497439.6:n.1711+229_1711+233del (POMGNT1)
ENST00000684817.1:n.1899+229_1899+233del (POMGNT1)
ENST00000684898.1:n.2101+229_2101+233del (POMGNT1)
ENST00000685230.1:c.*849+229_*849+233del (POMGNT1)	ENSP00000510305.1:n.*849+229_*849+233del
ENST00000685275.1:n.2086+229_2086+233del (POMGNT1)
ENST00000685444.1:c.1440+229_1440+233del (POMGNT1)	ENSP00000510762.1:n.1440+229_1440+233del
ENST00000685704.1:n.2101+229_2101+233del (POMGNT1)
ENST00000685775.1:n.3295_3299del (POMGNT1)
ENST00000685833.1:n.2646_2650del (POMGNT1)
ENST00000686252.1:n.2613+229_2613+233del (POMGNT1)
ENST00000686379.1:c.*663+229_*663+233del (POMGNT1)	ENSP00000508913.1:n.*663+229_*663+233del
ENST00000686724.1:n.1940_1944del (POMGNT1)
ENST00000686737.1:c.1539+229_1539+233del (POMGNT1)	ENSP00000508736.1:n.1539+229_1539+233del
ENST00000687112.1:n.2405+229_2405+233del (POMGNT1)
ENST00000687149.1:c.1539+229_1539+233del (POMGNT1)	ENSP00000509745.1:n.1539+229_1539+233del
ENST00000687197.1:c.*479+229_*479+233del (POMGNT1)	ENSP00000510749.1:n.*479+229_*479+233del
ENST00000687235.1:n.2330_2334del (POMGNT1)
ENST00000687613.1:n.2289+229_2289+233del (POMGNT1)
ENST00000687683.1:c.1539+229_1539+233del (POMGNT1)	ENSP00000508522.1:n.1539+229_1539+233del
ENST00000688032.1:n.2101+229_2101+233del (POMGNT1)
ENST00000688596.1:n.2190+229_2190+233del (POMGNT1)
ENST00000688608.1:c.1440+229_1440+233del (POMGNT1)	ENSP00000508890.1:n.1440+229_1440+233del
ENST00000688919.1:n.2735+229_2735+233del (POMGNT1)
ENST00000689031.1:n.2101+229_2101+233del (POMGNT1)
ENST00000689717.1:n.1711+229_1711+233del (POMGNT1)
ENST00000689756.1:c.*1171+229_*1171+233del (POMGNT1)	ENSP00000509023.1:n.*1171+229_*1171+233del
ENST00000690377.1:n.1886+229_1886+233del (POMGNT1)
ENST00000690678.1:c.1539+229_1539+233del (POMGNT1)	ENSP00000508703.1:n.1539+229_1539+233del
ENST00000691209.1:c.*479+229_*479+233del (POMGNT1)	ENSP00000510112.1:n.*479+229_*479+233del
ENST00000691243.1:c.1539+229_1539+233del (POMGNT1)	ENSP00000510654.1:n.1539+229_1539+233del
ENST00000692169.1:n.1917_1921del (POMGNT1)
ENST00000692202.1:n.2114+229_2114+233del (POMGNT1)
ENST00000692322.1:c.*1391+229_*1391+233del (POMGNT1)	ENSP00000509017.1:n.*1391+229_*1391+233del
ENST00000692369.1:c.1539+229_1539+233del (POMGNT1)	ENSP00000508453.1:n.1539+229_1539+233del
ENST00000692599.1:n.2330_2334del (POMGNT1)
ENST00000692635.1:c.*479+229_*479+233del (POMGNT1)	ENSP00000508425.1:n.*479+229_*479+233del
ENST00000693168.1:n.2029_2033del (POMGNT1)
ENST00000693218.1:c.1539+229_1539+233del (POMGNT1)	ENSP00000510577.1:n.1539+229_1539+233del
ENST00000693223.1:n.2487+229_2487+233del (POMGNT1)
ENST00000693365.1:n.4402_4406del (POMGNT1)
ENST00000371984.8:c.1539+229_1539+233del (POMGNT1) MANE Select	ENSP00000361052.3:n.1539+229_1539+233del
ENST00000371984.7:c.1539+229_1539+233del (POMGNT1)	ENSP00000361052.3:n.1539+229_1539+233del
ENST00000371992.1:c.1539+229_1539+233del (POMGNT1)	ENSP00000361060.1:n.1539+229_1539+233del
ENST00000396420.7:c.*1208+229_*1208+233del (POMGNT1)	ENSP00000379698.3:n.*1208+229_*1208+233del
ENST00000463030.1:n.389_393del (POMGNT1)
ENST00000485714.1:n.1154_1158del (POMGNT1)
NM_001243766.1:c.1539+229_1539+233del (POMGNT1)	NP_001230695.1:n.1539+229_1539+233del
NM_001290129.1:c.1473+229_1473+233del (POMGNT1)	NP_001277058.1:n.1473+229_1473+233del
NM_001290130.1:c.1110+229_1110+233del (POMGNT1)	NP_001277059.1:n.1110+229_1110+233del
NM_017739.3:c.1539+229_1539+233del (POMGNT1)	NP_060209.3:n.1539+229_1539+233del
XM_005271010.1:c.1539+229_1539+233del (POMGNT1)	XP_005271067.1:n.1539+229_1539+233del
XM_006710755.1:c.1539+229_1539+233del (POMGNT1)	XP_006710818.1:n.1539+229_1539+233del
XM_006710756.1:c.1539+229_1539+233del (POMGNT1)	XP_006710819.1:n.1539+229_1539+233del
XM_011540460.1:c.679-4337_679-4333del (TSPAN1)	XP_011538762.1:n.679-4337_679-4333del
XM_011540461.1:c.634-4337_634-4333del (TSPAN1)	XP_011538763.1:n.634-4337_634-4333del
XM_011541759.1:c.1473+229_1473+233del (POMGNT1)	XP_011540061.1:n.1473+229_1473+233del
XM_011541760.1:c.1473+229_1473+233del (POMGNT1)	XP_011540062.1:n.1473+229_1473+233del
XM_011541761.1:c.447+229_447+233del (POMGNT1)	XP_011540063.1:n.447+229_447+233del
XM_011540460.3:c.679-4337_679-4333del (TSPAN1)	XP_011538762.1:n.679-4337_679-4333del
XM_011541760.3:c.1473+229_1473+233del (POMGNT1)	XP_011540062.1:n.1473+229_1473+233del
XM_017001690.1:c.1539+229_1539+233del (POMGNT1)	XP_016857179.1:n.1539+229_1539+233del
NM_001243766.2:c.1539+229_1539+233del (POMGNT1)	NP_001230695.2:n.1539+229_1539+233del
NM_001290129.2:c.1473+229_1473+233del (POMGNT1)	NP_001277058.2:n.1473+229_1473+233del
NM_001290130.2:c.1110+229_1110+233del (POMGNT1)	NP_001277059.2:n.1110+229_1110+233del
NM_017739.4:c.1539+229_1539+233del (POMGNT1) MANE Select	NP_060209.4:n.1539+229_1539+233del