Canonical Allele Identifier: CA522811776

Gene: POMGNT1 TSPAN1

Linked Data

• dbSNP Id: rs1457691642
• gnomAD v2: 1-46657805-CAA-C
• gnomAD v4: 1-46192133-CAA-C
• MyVariant Identifiers: chr1:g.46657806_46657807del (hg19) ; chr1:g.46192134_46192135del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192135_46192136del , CM000663.2:g.46192135_46192136del	GRCh38
NC_000001.10:g.46657807_46657808del , CM000663.1:g.46657807_46657808del	GRCh37
NC_000001.9:g.46430394_46430395del	NCBI36
NG_009205.2:g.33171_33172del
NG_009205.3:g.33171_33172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1502_1503del (POMGNT1)	ENSP00000379698.4:p.Phe501TrpfsTer?
ENST00000477114.2:n.2064_2065del (POMGNT1)
ENST00000497439.6:n.1674_1675del (POMGNT1)
ENST00000684817.1:n.1862_1863del (POMGNT1)
ENST00000684898.1:n.2064_2065del (POMGNT1)
ENST00000685230.1:c.*812_*813del (POMGNT1)	ENSP00000510305.1:n.*812_*813del
ENST00000685275.1:n.2049_2050del (POMGNT1)
ENST00000685444.1:c.1403_1404del (POMGNT1)	ENSP00000510762.1:p.Phe468TrpfsTer?
ENST00000685704.1:n.2064_2065del (POMGNT1)
ENST00000685775.1:n.3029_3030del (POMGNT1)
ENST00000685833.1:n.2380_2381del (POMGNT1)
ENST00000686252.1:n.2576_2577del (POMGNT1)
ENST00000686379.1:c.*626_*627del (POMGNT1)	ENSP00000508913.1:n.*626_*627del
ENST00000686724.1:n.1674_1675del (POMGNT1)
ENST00000686737.1:c.1502_1503del (POMGNT1)	ENSP00000508736.1:p.Phe501TrpfsTer?
ENST00000687112.1:n.2368_2369del (POMGNT1)
ENST00000687149.1:c.1502_1503del (POMGNT1)	ENSP00000509745.1:p.Phe501TrpfsTer21
ENST00000687197.1:c.*442_*443del (POMGNT1)	ENSP00000510749.1:n.*442_*443del
ENST00000687235.1:n.2064_2065del (POMGNT1)
ENST00000687613.1:n.2252_2253del (POMGNT1)
ENST00000687683.1:c.1502_1503del (POMGNT1)	ENSP00000508522.1:p.Phe501TrpfsTer?
ENST00000688032.1:n.2064_2065del (POMGNT1)
ENST00000688596.1:n.2153_2154del (POMGNT1)
ENST00000688608.1:c.1403_1404del (POMGNT1)	ENSP00000508890.1:p.Phe468TrpfsTer?
ENST00000688919.1:n.2698_2699del (POMGNT1)
ENST00000689031.1:n.2064_2065del (POMGNT1)
ENST00000689717.1:n.1674_1675del (POMGNT1)
ENST00000689756.1:c.*1134_*1135del (POMGNT1)	ENSP00000509023.1:n.*1134_*1135del
ENST00000690377.1:n.1849_1850del (POMGNT1)
ENST00000690678.1:c.1502_1503del (POMGNT1)	ENSP00000508703.1:p.Phe501TrpfsTer?
ENST00000691209.1:c.*442_*443del (POMGNT1)	ENSP00000510112.1:n.*442_*443del
ENST00000691243.1:c.1502_1503del (POMGNT1)	ENSP00000510654.1:p.Phe501TrpfsTer?
ENST00000692169.1:n.1651_1652del (POMGNT1)
ENST00000692202.1:n.2077_2078del (POMGNT1)
ENST00000692322.1:c.*1354_*1355del (POMGNT1)	ENSP00000509017.1:n.*1354_*1355del
ENST00000692369.1:c.1502_1503del (POMGNT1)	ENSP00000508453.1:p.Phe501TrpfsTer?
ENST00000692599.1:n.2064_2065del (POMGNT1)
ENST00000692635.1:c.*442_*443del (POMGNT1)	ENSP00000508425.1:n.*442_*443del
ENST00000693168.1:n.1763_1764del (POMGNT1)
ENST00000693218.1:c.1502_1503del (POMGNT1)	ENSP00000510577.1:p.Phe501TrpfsTer?
ENST00000693223.1:n.2450_2451del (POMGNT1)
ENST00000693365.1:n.4136_4137del (POMGNT1)
ENST00000371984.8:c.1502_1503del (POMGNT1) MANE Select	ENSP00000361052.3:p.Phe501TrpfsTer?
ENST00000371984.7:c.1502_1503del (POMGNT1)	ENSP00000361052.3:p.Phe501TrpfsTer?
ENST00000371992.1:c.1502_1503del (POMGNT1)	ENSP00000361060.1:p.Phe501TrpfsTer?
ENST00000396420.7:c.*1171_*1172del (POMGNT1)	ENSP00000379698.3:n.*1171_*1172del
ENST00000463030.1:n.123_124del (POMGNT1)
ENST00000485714.1:n.888_889del (POMGNT1)
NM_001243766.1:c.1502_1503del (POMGNT1)	NP_001230695.1:p.Phe501TrpfsTer?
NM_001290129.1:c.1436_1437del (POMGNT1)	NP_001277058.1:p.Phe479TrpfsTer?
NM_001290130.1:c.1073_1074del (POMGNT1)	NP_001277059.1:p.Phe358TrpfsTer?
NM_017739.3:c.1502_1503del (POMGNT1)	NP_060209.3:p.Phe501TrpfsTer?
XM_005271010.1:c.1502_1503del (POMGNT1)	XP_005271067.1:p.Phe501TrpfsTer?
XM_006710755.1:c.1502_1503del (POMGNT1)	XP_006710818.1:p.Phe501TrpfsTer?
XM_006710756.1:c.1502_1503del (POMGNT1)	XP_006710819.1:p.Phe501TrpfsTer?
XM_011540460.1:c.679-4067_679-4066del (TSPAN1)	XP_011538762.1:n.679-4067_679-4066del
XM_011540461.1:c.634-4067_634-4066del (TSPAN1)	XP_011538763.1:n.634-4067_634-4066del
XM_011541759.1:c.1436_1437del (POMGNT1)	XP_011540061.1:p.Phe479TrpfsTer?
XM_011541760.1:c.1436_1437del (POMGNT1)	XP_011540062.1:p.Phe479TrpfsTer?
XM_011541761.1:c.410_411del (POMGNT1)	XP_011540063.1:p.Phe137TrpfsTer?
XM_011540460.3:c.679-4067_679-4066del (TSPAN1)	XP_011538762.1:n.679-4067_679-4066del
XM_011541760.3:c.1436_1437del (POMGNT1)	XP_011540062.1:p.Phe479TrpfsTer?
XM_017001690.1:c.1502_1503del (POMGNT1)	XP_016857179.1:p.Phe501TrpfsTer?
NM_001243766.2:c.1502_1503del (POMGNT1)	NP_001230695.2:p.Phe501TrpfsTer?
NM_001290129.2:c.1436_1437del (POMGNT1)	NP_001277058.2:p.Phe479TrpfsTer?
NM_001290130.2:c.1073_1074del (POMGNT1)	NP_001277059.2:p.Phe358TrpfsTer?
NM_017739.4:c.1502_1503del (POMGNT1) MANE Select	NP_060209.4:p.Phe501TrpfsTer?