Canonical Allele Identifier: CA2474082753

Gene: POMGNT1 TSPAN1

Linked Data

• dbSNP Id: rs1658012309

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46194075_46194078del , CM000663.2:g.46194075_46194078del	GRCh38
NC_000001.10:g.46659747_46659750del , CM000663.1:g.46659747_46659750del	GRCh37
NC_000001.9:g.46432334_46432337del	NCBI36
NG_009205.2:g.31230_31233del
NG_009205.3:g.31230_31233del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396420.8:c.880-151_880-148del (POMGNT1)	ENSP00000379698.4:n.880-151_880-148del
ENST00000477114.2:n.1052-151_1052-148del (POMGNT1)
ENST00000497439.6:n.1052-151_1052-148del (POMGNT1)
ENST00000684817.1:n.1240-151_1240-148del (POMGNT1)
ENST00000684898.1:n.1052-151_1052-148del (POMGNT1)
ENST00000685230.1:c.*159-151_*159-148del (POMGNT1)	ENSP00000510305.1:n.*159-151_*159-148del
ENST00000685275.1:n.1037-151_1037-148del (POMGNT1)
ENST00000685444.1:c.781-151_781-148del (POMGNT1)	ENSP00000510762.1:n.781-151_781-148del
ENST00000685704.1:n.1052-151_1052-148del (POMGNT1)
ENST00000685775.1:n.2017-151_2017-148del (POMGNT1)
ENST00000685833.1:n.1368-151_1368-148del (POMGNT1)
ENST00000686252.1:n.1954-151_1954-148del (POMGNT1)
ENST00000686379.1:c.880-151_880-148del (POMGNT1)	ENSP00000508913.1:n.880-151_880-148del
ENST00000686724.1:n.1052-151_1052-148del (POMGNT1)
ENST00000686737.1:c.880-151_880-148del (POMGNT1)	ENSP00000508736.1:n.880-151_880-148del
ENST00000687112.1:n.1052-151_1052-148del (POMGNT1)
ENST00000687149.1:c.880-151_880-148del (POMGNT1)	ENSP00000509745.1:n.880-151_880-148del
ENST00000687197.1:c.880-151_880-148del (POMGNT1)	ENSP00000510749.1:n.880-151_880-148del
ENST00000687235.1:n.1052-151_1052-148del (POMGNT1)
ENST00000687613.1:n.1240-151_1240-148del (POMGNT1)
ENST00000687683.1:c.880-151_880-148del (POMGNT1)	ENSP00000508522.1:n.880-151_880-148del
ENST00000688032.1:n.1052-151_1052-148del (POMGNT1)
ENST00000688596.1:n.1052-151_1052-148del (POMGNT1)
ENST00000688608.1:c.781-151_781-148del (POMGNT1)	ENSP00000508890.1:n.781-151_781-148del
ENST00000688919.1:n.1686-151_1686-148del (POMGNT1)
ENST00000689031.1:n.1052-151_1052-148del (POMGNT1)
ENST00000689717.1:n.1052-151_1052-148del (POMGNT1)
ENST00000689756.1:c.*512-151_*512-148del (POMGNT1)	ENSP00000509023.1:n.*512-151_*512-148del
ENST00000690377.1:n.1052-151_1052-148del (POMGNT1)
ENST00000690678.1:c.880-151_880-148del (POMGNT1)	ENSP00000508703.1:n.880-151_880-148del
ENST00000691209.1:c.880-151_880-148del (POMGNT1)	ENSP00000510112.1:n.880-151_880-148del
ENST00000691243.1:c.880-151_880-148del (POMGNT1)	ENSP00000510654.1:n.880-151_880-148del
ENST00000692169.1:n.1052-151_1052-148del (POMGNT1)
ENST00000692202.1:n.1240-151_1240-148del (POMGNT1)
ENST00000692322.1:c.*732-151_*732-148del (POMGNT1)	ENSP00000509017.1:n.*732-151_*732-148del
ENST00000692369.1:c.880-151_880-148del (POMGNT1)	ENSP00000508453.1:n.880-151_880-148del
ENST00000692599.1:n.1052-151_1052-148del (POMGNT1)
ENST00000692635.1:c.880-151_880-148del (POMGNT1)	ENSP00000508425.1:n.880-151_880-148del
ENST00000693168.1:n.1052-151_1052-148del (POMGNT1)
ENST00000693218.1:c.880-151_880-148del (POMGNT1)	ENSP00000510577.1:n.880-151_880-148del
ENST00000693223.1:n.1524-151_1524-148del (POMGNT1)
ENST00000693365.1:n.2820-151_2820-148del (POMGNT1)
ENST00000371984.8:c.880-151_880-148del (POMGNT1) MANE Select	ENSP00000361052.3:n.880-151_880-148del
ENST00000371984.7:c.880-151_880-148del (POMGNT1)	ENSP00000361052.3:n.880-151_880-148del
ENST00000371992.1:c.880-151_880-148del (POMGNT1)	ENSP00000361060.1:n.880-151_880-148del
ENST00000396420.7:c.*159-151_*159-148del (POMGNT1)	ENSP00000379698.3:n.*159-151_*159-148del
ENST00000477114.1:n.228-151_228-148del (POMGNT1)
NM_001243766.1:c.880-151_880-148del (POMGNT1)	NP_001230695.1:n.880-151_880-148del
NM_001290129.1:c.814-151_814-148del (POMGNT1)	NP_001277058.1:n.814-151_814-148del
NM_001290130.1:c.451-151_451-148del (POMGNT1)	NP_001277059.1:n.451-151_451-148del
NM_017739.3:c.880-151_880-148del (POMGNT1)	NP_060209.3:n.880-151_880-148del
XM_005271010.1:c.880-151_880-148del (POMGNT1)	XP_005271067.1:n.880-151_880-148del
XM_006710755.1:c.880-151_880-148del (POMGNT1)	XP_006710818.1:n.880-151_880-148del
XM_006710756.1:c.880-151_880-148del (POMGNT1)	XP_006710819.1:n.880-151_880-148del
XM_011540460.1:c.679-2127_679-2124del (TSPAN1)	XP_011538762.1:n.679-2127_679-2124del
XM_011540461.1:c.634-2127_634-2124del (TSPAN1)	XP_011538763.1:n.634-2127_634-2124del
XM_011541759.1:c.814-151_814-148del (POMGNT1)	XP_011540061.1:n.814-151_814-148del
XM_011541760.1:c.814-151_814-148del (POMGNT1)	XP_011540062.1:n.814-151_814-148del
XM_011541761.1:c.-214-151_-214-148del (POMGNT1)	XP_011540063.1:n.-214-151_-214-148del
XR_946706.1:n.1039-151_1039-148del (POMGNT1)
XM_011540460.3:c.679-2127_679-2124del (TSPAN1)	XP_011538762.1:n.679-2127_679-2124del
XM_011541760.3:c.814-151_814-148del (POMGNT1)	XP_011540062.1:n.814-151_814-148del
XM_017001690.1:c.880-151_880-148del (POMGNT1)	XP_016857179.1:n.880-151_880-148del
NM_001243766.2:c.880-151_880-148del (POMGNT1)	NP_001230695.2:n.880-151_880-148del
NM_001290129.2:c.814-151_814-148del (POMGNT1)	NP_001277058.2:n.814-151_814-148del
NM_001290130.2:c.451-151_451-148del (POMGNT1)	NP_001277059.2:n.451-151_451-148del
NM_017739.4:c.880-151_880-148del (POMGNT1) MANE Select	NP_060209.4:n.880-151_880-148del