Canonical Allele Identifier: CA2645441099

Gene: POMGNT1 TSPAN1

Linked Data

• gnomAD v4: 1-46192061-ATGCCACACTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192066_46192075del , CM000663.2:g.46192066_46192075del	GRCh38
NC_000001.10:g.46657738_46657747del , CM000663.1:g.46657738_46657747del	GRCh37
NC_000001.9:g.46430325_46430334del	NCBI36
NG_009205.2:g.33235_33244del
NG_009205.3:g.33235_33244del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396420.8:c.1539+27_1539+36del (POMGNT1)	ENSP00000379698.4:n.1539+27_1539+36del
ENST00000477114.2:n.2101+27_2101+36del (POMGNT1)
ENST00000497439.6:n.1711+27_1711+36del (POMGNT1)
ENST00000684817.1:n.1899+27_1899+36del (POMGNT1)
ENST00000684898.1:n.2101+27_2101+36del (POMGNT1)
ENST00000685230.1:c.*849+27_*849+36del (POMGNT1)	ENSP00000510305.1:n.*849+27_*849+36del
ENST00000685275.1:n.2086+27_2086+36del (POMGNT1)
ENST00000685444.1:c.1440+27_1440+36del (POMGNT1)	ENSP00000510762.1:n.1440+27_1440+36del
ENST00000685704.1:n.2101+27_2101+36del (POMGNT1)
ENST00000685775.1:n.3093_3102del (POMGNT1)
ENST00000685833.1:n.2444_2453del (POMGNT1)
ENST00000686252.1:n.2613+27_2613+36del (POMGNT1)
ENST00000686379.1:c.*663+27_*663+36del (POMGNT1)	ENSP00000508913.1:n.*663+27_*663+36del
ENST00000686724.1:n.1738_1747del (POMGNT1)
ENST00000686737.1:c.1539+27_1539+36del (POMGNT1)	ENSP00000508736.1:n.1539+27_1539+36del
ENST00000687112.1:n.2405+27_2405+36del (POMGNT1)
ENST00000687149.1:c.1539+27_1539+36del (POMGNT1)	ENSP00000509745.1:n.1539+27_1539+36del
ENST00000687197.1:c.*479+27_*479+36del (POMGNT1)	ENSP00000510749.1:n.*479+27_*479+36del
ENST00000687235.1:n.2128_2137del (POMGNT1)
ENST00000687613.1:n.2289+27_2289+36del (POMGNT1)
ENST00000687683.1:c.1539+27_1539+36del (POMGNT1)	ENSP00000508522.1:n.1539+27_1539+36del
ENST00000688032.1:n.2101+27_2101+36del (POMGNT1)
ENST00000688596.1:n.2190+27_2190+36del (POMGNT1)
ENST00000688608.1:c.1440+27_1440+36del (POMGNT1)	ENSP00000508890.1:n.1440+27_1440+36del
ENST00000688919.1:n.2735+27_2735+36del (POMGNT1)
ENST00000689031.1:n.2101+27_2101+36del (POMGNT1)
ENST00000689717.1:n.1711+27_1711+36del (POMGNT1)
ENST00000689756.1:c.*1171+27_*1171+36del (POMGNT1)	ENSP00000509023.1:n.*1171+27_*1171+36del
ENST00000690377.1:n.1886+27_1886+36del (POMGNT1)
ENST00000690678.1:c.1539+27_1539+36del (POMGNT1)	ENSP00000508703.1:n.1539+27_1539+36del
ENST00000691209.1:c.*479+27_*479+36del (POMGNT1)	ENSP00000510112.1:n.*479+27_*479+36del
ENST00000691243.1:c.1539+27_1539+36del (POMGNT1)	ENSP00000510654.1:n.1539+27_1539+36del
ENST00000692169.1:n.1715_1724del (POMGNT1)
ENST00000692202.1:n.2114+27_2114+36del (POMGNT1)
ENST00000692322.1:c.*1391+27_*1391+36del (POMGNT1)	ENSP00000509017.1:n.*1391+27_*1391+36del
ENST00000692369.1:c.1539+27_1539+36del (POMGNT1)	ENSP00000508453.1:n.1539+27_1539+36del
ENST00000692599.1:n.2128_2137del (POMGNT1)
ENST00000692635.1:c.*479+27_*479+36del (POMGNT1)	ENSP00000508425.1:n.*479+27_*479+36del
ENST00000693168.1:n.1827_1836del (POMGNT1)
ENST00000693218.1:c.1539+27_1539+36del (POMGNT1)	ENSP00000510577.1:n.1539+27_1539+36del
ENST00000693223.1:n.2487+27_2487+36del (POMGNT1)
ENST00000693365.1:n.4200_4209del (POMGNT1)
ENST00000371984.8:c.1539+27_1539+36del (POMGNT1) MANE Select	ENSP00000361052.3:n.1539+27_1539+36del
ENST00000371984.7:c.1539+27_1539+36del (POMGNT1)	ENSP00000361052.3:n.1539+27_1539+36del
ENST00000371992.1:c.1539+27_1539+36del (POMGNT1)	ENSP00000361060.1:n.1539+27_1539+36del
ENST00000396420.7:c.*1208+27_*1208+36del (POMGNT1)	ENSP00000379698.3:n.*1208+27_*1208+36del
ENST00000463030.1:n.187_196del (POMGNT1)
ENST00000485714.1:n.952_961del (POMGNT1)
NM_001243766.1:c.1539+27_1539+36del (POMGNT1)	NP_001230695.1:n.1539+27_1539+36del
NM_001290129.1:c.1473+27_1473+36del (POMGNT1)	NP_001277058.1:n.1473+27_1473+36del
NM_001290130.1:c.1110+27_1110+36del (POMGNT1)	NP_001277059.1:n.1110+27_1110+36del
NM_017739.3:c.1539+27_1539+36del (POMGNT1)	NP_060209.3:n.1539+27_1539+36del
XM_005271010.1:c.1539+27_1539+36del (POMGNT1)	XP_005271067.1:n.1539+27_1539+36del
XM_006710755.1:c.1539+27_1539+36del (POMGNT1)	XP_006710818.1:n.1539+27_1539+36del
XM_006710756.1:c.1539+27_1539+36del (POMGNT1)	XP_006710819.1:n.1539+27_1539+36del
XM_011540460.1:c.679-4136_679-4127del (TSPAN1)	XP_011538762.1:n.679-4136_679-4127del
XM_011540461.1:c.634-4136_634-4127del (TSPAN1)	XP_011538763.1:n.634-4136_634-4127del
XM_011541759.1:c.1473+27_1473+36del (POMGNT1)	XP_011540061.1:n.1473+27_1473+36del
XM_011541760.1:c.1473+27_1473+36del (POMGNT1)	XP_011540062.1:n.1473+27_1473+36del
XM_011541761.1:c.447+27_447+36del (POMGNT1)	XP_011540063.1:n.447+27_447+36del
XM_011540460.3:c.679-4136_679-4127del (TSPAN1)	XP_011538762.1:n.679-4136_679-4127del
XM_011541760.3:c.1473+27_1473+36del (POMGNT1)	XP_011540062.1:n.1473+27_1473+36del
XM_017001690.1:c.1539+27_1539+36del (POMGNT1)	XP_016857179.1:n.1539+27_1539+36del
NM_001243766.2:c.1539+27_1539+36del (POMGNT1)	NP_001230695.2:n.1539+27_1539+36del
NM_001290129.2:c.1473+27_1473+36del (POMGNT1)	NP_001277058.2:n.1473+27_1473+36del
NM_001290130.2:c.1110+27_1110+36del (POMGNT1)	NP_001277059.2:n.1110+27_1110+36del
NM_017739.4:c.1539+27_1539+36del (POMGNT1) MANE Select	NP_060209.4:n.1539+27_1539+36del