Canonical Allele Identifier: CA913075252

Gene: POMGNT1 TSPAN1

Linked Data

• MyVariant Identifiers: chr1:g.46657768_46657769del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192096_46192097del , CM000663.2:g.46192096_46192097del	GRCh38
NC_000001.10:g.46657768_46657769del , CM000663.1:g.46657768_46657769del	GRCh37
NC_000001.9:g.46430355_46430356del	NCBI36
NG_009205.2:g.33210_33211del
NG_009205.3:g.33210_33211del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396420.8:c.1539+2_1539+3del (POMGNT1)	ENSP00000379698.4:n.1539+2_1539+3del
ENST00000477114.2:n.2101+2_2101+3del (POMGNT1)
ENST00000497439.6:n.1711+2_1711+3del (POMGNT1)
ENST00000684817.1:n.1899+2_1899+3del (POMGNT1)
ENST00000684898.1:n.2101+2_2101+3del (POMGNT1)
ENST00000685230.1:c.*849+2_*849+3del (POMGNT1)	ENSP00000510305.1:n.*849+2_*849+3del
ENST00000685275.1:n.2086+2_2086+3del (POMGNT1)
ENST00000685444.1:c.1440+2_1440+3del (POMGNT1)	ENSP00000510762.1:n.1440+2_1440+3del
ENST00000685704.1:n.2101+2_2101+3del (POMGNT1)
ENST00000685775.1:n.3068_3069del (POMGNT1)
ENST00000685833.1:n.2419_2420del (POMGNT1)
ENST00000686252.1:n.2613+2_2613+3del (POMGNT1)
ENST00000686379.1:c.*663+2_*663+3del (POMGNT1)	ENSP00000508913.1:n.*663+2_*663+3del
ENST00000686724.1:n.1713_1714del (POMGNT1)
ENST00000686737.1:c.1539+2_1539+3del (POMGNT1)	ENSP00000508736.1:n.1539+2_1539+3del
ENST00000687112.1:n.2405+2_2405+3del (POMGNT1)
ENST00000687149.1:c.1539+2_1539+3del (POMGNT1)	ENSP00000509745.1:n.1539+2_1539+3del
ENST00000687197.1:c.*479+2_*479+3del (POMGNT1)	ENSP00000510749.1:n.*479+2_*479+3del
ENST00000687235.1:n.2103_2104del (POMGNT1)
ENST00000687613.1:n.2289+2_2289+3del (POMGNT1)
ENST00000687683.1:c.1539+2_1539+3del (POMGNT1)	ENSP00000508522.1:n.1539+2_1539+3del
ENST00000688032.1:n.2101+2_2101+3del (POMGNT1)
ENST00000688596.1:n.2190+2_2190+3del (POMGNT1)
ENST00000688608.1:c.1440+2_1440+3del (POMGNT1)	ENSP00000508890.1:n.1440+2_1440+3del
ENST00000688919.1:n.2735+2_2735+3del (POMGNT1)
ENST00000689031.1:n.2101+2_2101+3del (POMGNT1)
ENST00000689717.1:n.1711+2_1711+3del (POMGNT1)
ENST00000689756.1:c.*1171+2_*1171+3del (POMGNT1)	ENSP00000509023.1:n.*1171+2_*1171+3del
ENST00000690377.1:n.1886+2_1886+3del (POMGNT1)
ENST00000690678.1:c.1539+2_1539+3del (POMGNT1)	ENSP00000508703.1:n.1539+2_1539+3del
ENST00000691209.1:c.*479+2_*479+3del (POMGNT1)	ENSP00000510112.1:n.*479+2_*479+3del
ENST00000691243.1:c.1539+2_1539+3del (POMGNT1)	ENSP00000510654.1:n.1539+2_1539+3del
ENST00000692169.1:n.1690_1691del (POMGNT1)
ENST00000692202.1:n.2114+2_2114+3del (POMGNT1)
ENST00000692322.1:c.*1391+2_*1391+3del (POMGNT1)	ENSP00000509017.1:n.*1391+2_*1391+3del
ENST00000692369.1:c.1539+2_1539+3del (POMGNT1)	ENSP00000508453.1:n.1539+2_1539+3del
ENST00000692599.1:n.2103_2104del (POMGNT1)
ENST00000692635.1:c.*479+2_*479+3del (POMGNT1)	ENSP00000508425.1:n.*479+2_*479+3del
ENST00000693168.1:n.1802_1803del (POMGNT1)
ENST00000693218.1:c.1539+2_1539+3del (POMGNT1)	ENSP00000510577.1:n.1539+2_1539+3del
ENST00000693223.1:n.2487+2_2487+3del (POMGNT1)
ENST00000693365.1:n.4175_4176del (POMGNT1)
ENST00000371984.8:c.1539+2_1539+3del (POMGNT1) MANE Select	ENSP00000361052.3:n.1539+2_1539+3del
ENST00000371984.7:c.1539+2_1539+3del (POMGNT1)	ENSP00000361052.3:n.1539+2_1539+3del
ENST00000371992.1:c.1539+2_1539+3del (POMGNT1)	ENSP00000361060.1:n.1539+2_1539+3del
ENST00000396420.7:c.*1208+2_*1208+3del (POMGNT1)	ENSP00000379698.3:n.*1208+2_*1208+3del
ENST00000463030.1:n.162_163del (POMGNT1)
ENST00000485714.1:n.927_928del (POMGNT1)
NM_001243766.1:c.1539+2_1539+3del (POMGNT1)	NP_001230695.1:n.1539+2_1539+3del
NM_001290129.1:c.1473+2_1473+3del (POMGNT1)	NP_001277058.1:n.1473+2_1473+3del
NM_001290130.1:c.1110+2_1110+3del (POMGNT1)	NP_001277059.1:n.1110+2_1110+3del
NM_017739.3:c.1539+2_1539+3del (POMGNT1)	NP_060209.3:n.1539+2_1539+3del
XM_005271010.1:c.1539+2_1539+3del (POMGNT1)	XP_005271067.1:n.1539+2_1539+3del
XM_006710755.1:c.1539+2_1539+3del (POMGNT1)	XP_006710818.1:n.1539+2_1539+3del
XM_006710756.1:c.1539+2_1539+3del (POMGNT1)	XP_006710819.1:n.1539+2_1539+3del
XM_011540460.1:c.679-4106_679-4105del (TSPAN1)	XP_011538762.1:n.679-4106_679-4105del
XM_011540461.1:c.634-4106_634-4105del (TSPAN1)	XP_011538763.1:n.634-4106_634-4105del
XM_011541759.1:c.1473+2_1473+3del (POMGNT1)	XP_011540061.1:n.1473+2_1473+3del
XM_011541760.1:c.1473+2_1473+3del (POMGNT1)	XP_011540062.1:n.1473+2_1473+3del
XM_011541761.1:c.447+2_447+3del (POMGNT1)	XP_011540063.1:n.447+2_447+3del
XM_011540460.3:c.679-4106_679-4105del (TSPAN1)	XP_011538762.1:n.679-4106_679-4105del
XM_011541760.3:c.1473+2_1473+3del (POMGNT1)	XP_011540062.1:n.1473+2_1473+3del
XM_017001690.1:c.1539+2_1539+3del (POMGNT1)	XP_016857179.1:n.1539+2_1539+3del
NM_001243766.2:c.1539+2_1539+3del (POMGNT1)	NP_001230695.2:n.1539+2_1539+3del
NM_001290129.2:c.1473+2_1473+3del (POMGNT1)	NP_001277058.2:n.1473+2_1473+3del
NM_001290130.2:c.1110+2_1110+3del (POMGNT1)	NP_001277059.2:n.1110+2_1110+3del
NM_017739.4:c.1539+2_1539+3del (POMGNT1) MANE Select	NP_060209.4:n.1539+2_1539+3del