Canonical Allele Identifier: CA2743457065

Gene: POMGNT1 TSPAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192301_46192302del , CM000663.2:g.46192301_46192302del	GRCh38
NC_000001.10:g.46657973_46657974del , CM000663.1:g.46657973_46657974del	GRCh37
NC_000001.9:g.46430560_46430561del	NCBI36
NG_009205.2:g.33005_33006del
NG_009205.3:g.33005_33006del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396420.8:c.1413+7_1413+8del (POMGNT1)	ENSP00000379698.4:n.1413+7_1413+8del
ENST00000477114.2:n.1975+7_1975+8del (POMGNT1)
ENST00000497439.6:n.1585+7_1585+8del (POMGNT1)
ENST00000684817.1:n.1773+7_1773+8del (POMGNT1)
ENST00000684898.1:n.1975+7_1975+8del (POMGNT1)
ENST00000685230.1:c.*723+7_*723+8del (POMGNT1)	ENSP00000510305.1:n.*723+7_*723+8del
ENST00000685275.1:n.1960+7_1960+8del (POMGNT1)
ENST00000685444.1:c.1314+7_1314+8del (POMGNT1)	ENSP00000510762.1:n.1314+7_1314+8del
ENST00000685704.1:n.1975+7_1975+8del (POMGNT1)
ENST00000685775.1:n.2940+7_2940+8del (POMGNT1)
ENST00000685833.1:n.2291+7_2291+8del (POMGNT1)
ENST00000686252.1:n.2487+7_2487+8del (POMGNT1)
ENST00000686379.1:c.*537+7_*537+8del (POMGNT1)	ENSP00000508913.1:n.*537+7_*537+8del
ENST00000686724.1:n.1585+7_1585+8del (POMGNT1)
ENST00000686737.1:c.1413+7_1413+8del (POMGNT1)	ENSP00000508736.1:n.1413+7_1413+8del
ENST00000687112.1:n.2279+7_2279+8del (POMGNT1)
ENST00000687149.1:c.1413+7_1413+8del (POMGNT1)	ENSP00000509745.1:n.1413+7_1413+8del
ENST00000687197.1:c.*353+7_*353+8del (POMGNT1)	ENSP00000510749.1:n.*353+7_*353+8del
ENST00000687235.1:n.1975+7_1975+8del (POMGNT1)
ENST00000687613.1:n.2163+7_2163+8del (POMGNT1)
ENST00000687683.1:c.1413+7_1413+8del (POMGNT1)	ENSP00000508522.1:n.1413+7_1413+8del
ENST00000688032.1:n.1975+7_1975+8del (POMGNT1)
ENST00000688596.1:n.2064+7_2064+8del (POMGNT1)
ENST00000688608.1:c.1314+7_1314+8del (POMGNT1)	ENSP00000508890.1:n.1314+7_1314+8del
ENST00000688919.1:n.2609+7_2609+8del (POMGNT1)
ENST00000689031.1:n.1975+7_1975+8del (POMGNT1)
ENST00000689717.1:n.1585+7_1585+8del (POMGNT1)
ENST00000689756.1:c.*1045+7_*1045+8del (POMGNT1)	ENSP00000509023.1:n.*1045+7_*1045+8del
ENST00000690377.1:n.1760+7_1760+8del (POMGNT1)
ENST00000690678.1:c.1413+7_1413+8del (POMGNT1)	ENSP00000508703.1:n.1413+7_1413+8del
ENST00000691209.1:c.*353+7_*353+8del (POMGNT1)	ENSP00000510112.1:n.*353+7_*353+8del
ENST00000691243.1:c.1413+7_1413+8del (POMGNT1)	ENSP00000510654.1:n.1413+7_1413+8del
ENST00000692169.1:n.1562+7_1562+8del (POMGNT1)
ENST00000692202.1:n.1988+7_1988+8del (POMGNT1)
ENST00000692322.1:c.*1265+7_*1265+8del (POMGNT1)	ENSP00000509017.1:n.*1265+7_*1265+8del
ENST00000692369.1:c.1413+7_1413+8del (POMGNT1)	ENSP00000508453.1:n.1413+7_1413+8del
ENST00000692599.1:n.1975+7_1975+8del (POMGNT1)
ENST00000692635.1:c.*353+7_*353+8del (POMGNT1)	ENSP00000508425.1:n.*353+7_*353+8del
ENST00000693168.1:n.1674+7_1674+8del (POMGNT1)
ENST00000693218.1:c.1413+7_1413+8del (POMGNT1)	ENSP00000510577.1:n.1413+7_1413+8del
ENST00000693223.1:n.2361+7_2361+8del (POMGNT1)
ENST00000693365.1:n.4047+7_4047+8del (POMGNT1)
ENST00000371984.8:c.1413+7_1413+8del (POMGNT1) MANE Select	ENSP00000361052.3:n.1413+7_1413+8del
ENST00000371984.7:c.1413+7_1413+8del (POMGNT1)	ENSP00000361052.3:n.1413+7_1413+8del
ENST00000371992.1:c.1413+7_1413+8del (POMGNT1)	ENSP00000361060.1:n.1413+7_1413+8del
ENST00000396420.7:c.*1082+7_*1082+8del (POMGNT1)	ENSP00000379698.3:n.*1082+7_*1082+8del
ENST00000463030.1:n.34+7_34+8del (POMGNT1)
ENST00000485714.1:n.799+7_799+8del (POMGNT1)
NM_001243766.1:c.1413+7_1413+8del (POMGNT1)	NP_001230695.1:n.1413+7_1413+8del
NM_001290129.1:c.1347+7_1347+8del (POMGNT1)	NP_001277058.1:n.1347+7_1347+8del
NM_001290130.1:c.984+7_984+8del (POMGNT1)	NP_001277059.1:n.984+7_984+8del
NM_017739.3:c.1413+7_1413+8del (POMGNT1)	NP_060209.3:n.1413+7_1413+8del
XM_005271010.1:c.1413+7_1413+8del (POMGNT1)	XP_005271067.1:n.1413+7_1413+8del
XM_006710755.1:c.1413+7_1413+8del (POMGNT1)	XP_006710818.1:n.1413+7_1413+8del
XM_006710756.1:c.1413+7_1413+8del (POMGNT1)	XP_006710819.1:n.1413+7_1413+8del
XM_011540460.1:c.679-3901_679-3900del (TSPAN1)	XP_011538762.1:n.679-3901_679-3900del
XM_011540461.1:c.634-3901_634-3900del (TSPAN1)	XP_011538763.1:n.634-3901_634-3900del
XM_011541759.1:c.1347+7_1347+8del (POMGNT1)	XP_011540061.1:n.1347+7_1347+8del
XM_011541760.1:c.1347+7_1347+8del (POMGNT1)	XP_011540062.1:n.1347+7_1347+8del
XM_011541761.1:c.321+7_321+8del (POMGNT1)	XP_011540063.1:n.321+7_321+8del
XR_946706.1:n.1573+7_1573+8del (POMGNT1)
XM_011540460.3:c.679-3901_679-3900del (TSPAN1)	XP_011538762.1:n.679-3901_679-3900del
XM_011541760.3:c.1347+7_1347+8del (POMGNT1)	XP_011540062.1:n.1347+7_1347+8del
XM_017001690.1:c.1413+7_1413+8del (POMGNT1)	XP_016857179.1:n.1413+7_1413+8del
NM_001243766.2:c.1413+7_1413+8del (POMGNT1)	NP_001230695.2:n.1413+7_1413+8del
NM_001290129.2:c.1347+7_1347+8del (POMGNT1)	NP_001277058.2:n.1347+7_1347+8del
NM_001290130.2:c.984+7_984+8del (POMGNT1)	NP_001277059.2:n.984+7_984+8del
NM_017739.4:c.1413+7_1413+8del (POMGNT1) MANE Select	NP_060209.4:n.1413+7_1413+8del