Canonical Allele Identifier: CA736239944

Gene: POMGNT1 TSPAN1

Linked Data

• ClinVar Variation Id: 1455052
• ClinVar RCV Id: RCV001939655 ; RCV003464304
• dbSNP Id: rs1302430730
• gnomAD v3: 1-46189875-GGTGAA-G
• gnomAD v4: 1-46189875-GGTGAA-G
• MyVariant Identifiers: chr1:g.46655548_46655552del (hg19) ; chr1:g.46189876_46189880del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46189878_46189882del , CM000663.2:g.46189878_46189882del	GRCh38
NC_000001.10:g.46655550_46655554del , CM000663.1:g.46655550_46655554del	GRCh37
NC_000001.9:g.46428137_46428141del	NCBI36
NG_009205.2:g.35426_35430del
NG_009205.3:g.35426_35430del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1759_1763del (POMGNT1)	ENSP00000379698.4:p.Phe587HisfsTer?
ENST00000497439.6:n.1931_1935del (POMGNT1)
ENST00000684817.1:n.2119_2123del (POMGNT1)
ENST00000684898.1:n.2321_2325del (POMGNT1)
ENST00000685230.1:c.*1069_*1073del (POMGNT1)	ENSP00000510305.1:n.*1069_*1073del
ENST00000685275.1:n.2306_2310del (POMGNT1)
ENST00000685444.1:c.1660_1664del (POMGNT1)	ENSP00000510762.1:p.Phe554HisfsTer?
ENST00000685704.1:n.2425_2429del (POMGNT1)
ENST00000685833.1:n.4152_4156del (POMGNT1)
ENST00000686252.1:n.2833_2837del (POMGNT1)
ENST00000686379.1:c.*883_*887del (POMGNT1)	ENSP00000508913.1:n.*883_*887del
ENST00000686724.1:n.3446_3450del (POMGNT1)
ENST00000686737.1:c.1759_1763del (POMGNT1)	ENSP00000508736.1:p.Phe587HisfsTer?
ENST00000687112.1:n.2625_2629del (POMGNT1)
ENST00000687149.1:c.1798_1802del (POMGNT1)	ENSP00000509745.1:p.Phe600HisfsTer?
ENST00000687197.1:c.*699_*703del (POMGNT1)	ENSP00000510749.1:n.*699_*703del
ENST00000687235.1:n.3836_3840del (POMGNT1)
ENST00000687613.1:n.2399_2403del (POMGNT1)
ENST00000687683.1:c.1759_1763del (POMGNT1)	ENSP00000508522.1:p.Phe587HisfsTer?
ENST00000688032.1:n.2296_2300del (POMGNT1)
ENST00000688596.1:n.2410_2414del (POMGNT1)
ENST00000688608.1:c.1660_1664del (POMGNT1)	ENSP00000508890.1:p.Phe554HisfsTer?
ENST00000689031.1:n.2211_2215del (POMGNT1)
ENST00000689756.1:c.*1391_*1395del (POMGNT1)	ENSP00000509023.1:n.*1391_*1395del
ENST00000690377.1:n.2106_2110del (POMGNT1)
ENST00000690678.1:c.1759_1763del (POMGNT1)	ENSP00000508703.1:p.Phe587HisfsTer?
ENST00000691209.1:c.*699_*703del (POMGNT1)	ENSP00000510112.1:n.*699_*703del
ENST00000691243.1:c.*150_*154del (POMGNT1)	ENSP00000510654.1:n.*150_*154del
ENST00000692202.1:n.2334_2338del (POMGNT1)
ENST00000692322.1:c.*1546_*1550del (POMGNT1)	ENSP00000509017.1:n.*1546_*1550del
ENST00000692369.1:c.1759_1763del (POMGNT1)	ENSP00000508453.1:p.Phe587HisfsTer?
ENST00000692599.1:n.3634_3638del (POMGNT1)
ENST00000692635.1:c.*634_*638del (POMGNT1)	ENSP00000508425.1:n.*634_*638del
ENST00000693168.1:n.3535_3539del (POMGNT1)
ENST00000693218.1:c.*320_*324del (POMGNT1)	ENSP00000510577.1:n.*320_*324del
ENST00000693223.1:n.2707_2711del (POMGNT1)
ENST00000371984.8:c.1759_1763del (POMGNT1) MANE Select	ENSP00000361052.3:p.Phe587HisfsTer?
ENST00000371984.7:c.1759_1763del (POMGNT1)	ENSP00000361052.3:p.Phe587HisfsTer?
ENST00000371992.1:c.1759_1763del (POMGNT1)	ENSP00000361060.1:p.Phe587HisfsTer?
ENST00000396420.7:c.*1428_*1432del (POMGNT1)	ENSP00000379698.3:n.*1428_*1432del
ENST00000480972.1:n.408_412del (POMGNT1)
NM_001243766.1:c.1759_1763del (POMGNT1)	NP_001230695.1:p.Phe587HisfsTer?
NM_001290129.1:c.1693_1697del (POMGNT1)	NP_001277058.1:p.Phe565HisfsTer?
NM_001290130.1:c.1330_1334del (POMGNT1)	NP_001277059.1:p.Phe444HisfsTer?
NM_017739.3:c.1759_1763del (POMGNT1)	NP_060209.3:p.Phe587HisfsTer?
XM_005271010.1:c.1759_1763del (POMGNT1)	XP_005271067.1:p.Phe587HisfsTer?
XM_006710755.1:c.1759_1763del (POMGNT1)	XP_006710818.1:p.Phe587HisfsTer?
XM_006710756.1:c.1759_1763del (POMGNT1)	XP_006710819.1:p.Phe587HisfsTer?
XM_011540460.1:c.678+4570_678+4574del (TSPAN1)	XP_011538762.1:n.678+4570_678+4574del
XM_011540461.1:c.633+4570_633+4574del (TSPAN1)	XP_011538763.1:n.633+4570_633+4574del
XM_011541759.1:c.1693_1697del (POMGNT1)	XP_011540061.1:p.Phe565HisfsTer?
XM_011541760.1:c.1693_1697del (POMGNT1)	XP_011540062.1:p.Phe565HisfsTer?
XM_011541761.1:c.667_671del (POMGNT1)	XP_011540063.1:p.Phe223HisfsTer?
XM_011540460.3:c.678+4570_678+4574del (TSPAN1)	XP_011538762.1:n.678+4570_678+4574del
XM_011541760.3:c.1693_1697del (POMGNT1)	XP_011540062.1:p.Phe565HisfsTer?
XM_017001690.1:c.1759_1763del (POMGNT1)	XP_016857179.1:p.Phe587HisfsTer?
NM_001243766.2:c.1759_1763del (POMGNT1)	NP_001230695.2:p.Phe587HisfsTer?
NM_001290129.2:c.1693_1697del (POMGNT1)	NP_001277058.2:p.Phe565HisfsTer?
NM_001290130.2:c.1330_1334del (POMGNT1)	NP_001277059.2:p.Phe444HisfsTer?
NM_017739.4:c.1759_1763del (POMGNT1) MANE Select	NP_060209.4:p.Phe587HisfsTer?