Canonical Allele Identifier: CA2474082426

Gene: POMGNT1 TSPAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46193218_46193223delinsGGGAGT , CM000663.2:g.46193218_46193223delinsGGGAGT	GRCh38
NC_000001.10:g.46658890_46658895delinsGGGAGT , CM000663.1:g.46658890_46658895delinsGGGAGT	GRCh37
NC_000001.9:g.46431477_46431482delinsGGGAGT	NCBI36
NG_009205.2:g.32083_32088delinsACTCCC
NG_009205.3:g.32083_32088delinsACTCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000396420.8:c.1111-8_1111-3delinsACTCCC (POMGNT1)	ENSP00000379698.4:n.1111-8_1111-3delinsAC...
ENST00000477114.2:n.1673-8_1673-3delinsACTCCC (POMGNT1)
ENST00000497439.6:n.1283-8_1283-3delinsACTCCC (POMGNT1)
ENST00000684817.1:n.1471-8_1471-3delinsACTCCC (POMGNT1)
ENST00000684898.1:n.1673-8_1673-3delinsACTCCC (POMGNT1)
ENST00000685230.1:c.*421-8_*421-3delinsACTCCC (POMGNT1)	ENSP00000510305.1:n.*421-8_*421-3delinsAC...
ENST00000685275.1:n.1658-8_1658-3delinsACTCCC (POMGNT1)
ENST00000685444.1:c.1012-8_1012-3delinsACTCCC (POMGNT1)	ENSP00000510762.1:n.1012-8_1012-3delinsAC...
ENST00000685704.1:n.1673-8_1673-3delinsACTCCC (POMGNT1)
ENST00000685775.1:n.2638-8_2638-3delinsACTCCC (POMGNT1)
ENST00000685833.1:n.1989-8_1989-3delinsACTCCC (POMGNT1)
ENST00000686252.1:n.2185-8_2185-3delinsACTCCC (POMGNT1)
ENST00000686379.1:c.*235-8_*235-3delinsACTCCC (POMGNT1)	ENSP00000508913.1:n.*235-8_*235-3delinsAC...
ENST00000686724.1:n.1283-8_1283-3delinsACTCCC (POMGNT1)
ENST00000686737.1:c.1111-8_1111-3delinsACTCCC (POMGNT1)	ENSP00000508736.1:n.1111-8_1111-3delinsAC...
ENST00000687112.1:n.1754_1759delinsACTCCC (POMGNT1)
ENST00000687149.1:c.1111-8_1111-3delinsACTCCC (POMGNT1)	ENSP00000509745.1:n.1111-8_1111-3delinsAC...
ENST00000687197.1:c.*51-8_*51-3delinsACTCCC (POMGNT1)	ENSP00000510749.1:n.*51-8_*51-3delinsACTC...
ENST00000687235.1:n.1673-8_1673-3delinsACTCCC (POMGNT1)
ENST00000687613.1:n.1861-8_1861-3delinsACTCCC (POMGNT1)
ENST00000687683.1:c.1111-8_1111-3delinsACTCCC (POMGNT1)	ENSP00000508522.1:n.1111-8_1111-3delinsAC...
ENST00000688032.1:n.1673-8_1673-3delinsACTCCC (POMGNT1)
ENST00000688596.1:n.1539_1544delinsACTCCC (POMGNT1)
ENST00000688608.1:c.1012-8_1012-3delinsACTCCC (POMGNT1)	ENSP00000508890.1:n.1012-8_1012-3delinsAC...
ENST00000688919.1:n.2307-8_2307-3delinsACTCCC (POMGNT1)
ENST00000689031.1:n.1673-8_1673-3delinsACTCCC (POMGNT1)
ENST00000689717.1:n.1283-8_1283-3delinsACTCCC (POMGNT1)
ENST00000689756.1:c.*743-8_*743-3delinsACTCCC (POMGNT1)	ENSP00000509023.1:n.*743-8_*743-3delinsAC...
ENST00000690377.1:n.1458-8_1458-3delinsACTCCC (POMGNT1)
ENST00000690678.1:c.1111-8_1111-3delinsACTCCC (POMGNT1)	ENSP00000508703.1:n.1111-8_1111-3delinsAC...
ENST00000691209.1:c.*51-8_*51-3delinsACTCCC (POMGNT1)	ENSP00000510112.1:n.*51-8_*51-3delinsACTC...
ENST00000691243.1:c.1111-8_1111-3delinsACTCCC (POMGNT1)	ENSP00000510654.1:n.1111-8_1111-3delinsAC...
ENST00000692169.1:n.1260-8_1260-3delinsACTCCC (POMGNT1)
ENST00000692202.1:n.1686-8_1686-3delinsACTCCC (POMGNT1)
ENST00000692322.1:c.*963-8_*963-3delinsACTCCC (POMGNT1)	ENSP00000509017.1:n.*963-8_*963-3delinsAC...
ENST00000692369.1:c.1111-8_1111-3delinsACTCCC (POMGNT1)	ENSP00000508453.1:n.1111-8_1111-3delinsAC...
ENST00000692599.1:n.1673-8_1673-3delinsACTCCC (POMGNT1)
ENST00000692635.1:c.*51-8_*51-3delinsACTCCC (POMGNT1)	ENSP00000508425.1:n.*51-8_*51-3delinsACTC...
ENST00000693168.1:n.1364_1369delinsACTCCC (POMGNT1)
ENST00000693218.1:c.1111-8_1111-3delinsACTCCC (POMGNT1)	ENSP00000510577.1:n.1111-8_1111-3delinsAC...
ENST00000693223.1:n.1836_1841delinsACTCCC (POMGNT1)
ENST00000693365.1:n.3522_3527delinsACTCCC (POMGNT1)
ENST00000371984.8:c.1111-8_1111-3delinsACTCCC (POMGNT1) MANE Select	ENSP00000361052.3:n.1111-8_1111-3delinsAC...
ENST00000371984.7:c.1111-8_1111-3delinsACTCCC (POMGNT1)	ENSP00000361052.3:n.1111-8_1111-3delinsAC...
ENST00000371992.1:c.1111-8_1111-3delinsACTCCC (POMGNT1)	ENSP00000361060.1:n.1111-8_1111-3delinsAC...
ENST00000396420.7:c.*780-8_*780-3delinsACTCCC (POMGNT1)	ENSP00000379698.3:n.*780-8_*780-3delinsAC...
ENST00000485714.1:n.497-8_497-3delinsACTCCC (POMGNT1)
NM_001243766.1:c.1111-8_1111-3delinsACTCCC (POMGNT1)	NP_001230695.1:n.1111-8_1111-3delinsACTCC...
NM_001290129.1:c.1045-8_1045-3delinsACTCCC (POMGNT1)	NP_001277058.1:n.1045-8_1045-3delinsACTCC...
NM_001290130.1:c.682-8_682-3delinsACTCCC (POMGNT1)	NP_001277059.1:n.682-8_682-3delinsACTCCC
NM_017739.3:c.1111-8_1111-3delinsACTCCC (POMGNT1)	NP_060209.3:n.1111-8_1111-3delinsACTCCC
XM_005271010.1:c.1111-8_1111-3delinsACTCCC (POMGNT1)	XP_005271067.1:n.1111-8_1111-3delinsACTCC...
XM_006710755.1:c.1111-8_1111-3delinsACTCCC (POMGNT1)	XP_006710818.1:n.1111-8_1111-3delinsACTCC...
XM_006710756.1:c.1111-8_1111-3delinsACTCCC (POMGNT1)	XP_006710819.1:n.1111-8_1111-3delinsACTCC...
XM_011540460.1:c.679-2984_679-2979delinsGGGAGT (TSPAN1)	XP_011538762.1:n.679-2984_679-2979delinsG...
XM_011540461.1:c.634-2984_634-2979delinsGGGAGT (TSPAN1)	XP_011538763.1:n.634-2984_634-2979delinsG...
XM_011541759.1:c.1045-8_1045-3delinsACTCCC (POMGNT1)	XP_011540061.1:n.1045-8_1045-3delinsACTCC...
XM_011541760.1:c.1045-8_1045-3delinsACTCCC (POMGNT1)	XP_011540062.1:n.1045-8_1045-3delinsACTCC...
XM_011541761.1:c.18-8_18-3delinsACTCCC (POMGNT1)	XP_011540063.1:n.18-8_18-3delinsACTCCC
XR_946706.1:n.1270-8_1270-3delinsACTCCC (POMGNT1)
XM_011540460.3:c.679-2984_679-2979delinsGGGAGT (TSPAN1)	XP_011538762.1:n.679-2984_679-2979delinsG...
XM_011541760.3:c.1045-8_1045-3delinsACTCCC (POMGNT1)	XP_011540062.1:n.1045-8_1045-3delinsACTCC...
XM_017001690.1:c.1111-8_1111-3delinsACTCCC (POMGNT1)	XP_016857179.1:n.1111-8_1111-3delinsACTCC...
NM_001243766.2:c.1111-8_1111-3delinsACTCCC (POMGNT1)	NP_001230695.2:n.1111-8_1111-3delinsACTCC...
NM_001290129.2:c.1045-8_1045-3delinsACTCCC (POMGNT1)	NP_001277058.2:n.1045-8_1045-3delinsACTCC...
NM_001290130.2:c.682-8_682-3delinsACTCCC (POMGNT1)	NP_001277059.2:n.682-8_682-3delinsACTCCC
NM_017739.4:c.1111-8_1111-3delinsACTCCC (POMGNT1) MANE Select	NP_060209.4:n.1111-8_1111-3delinsACTCCC