Canonical Allele Identifier: CA522811775

Gene: POMGNT1 TSPAN1

Linked Data

• dbSNP Id: rs1414179601
• gnomAD v2: 1-46657804-C-CTGT
• gnomAD v4: 1-46192132-C-CTGT
• MyVariant Identifiers: chr1:g.46657804_46657805insTGT (hg19) ; chr1:g.46192132_46192133insTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46192132_46192133insTGT , CM000663.2:g.46192132_46192133insTGT	GRCh38
NC_000001.10:g.46657804_46657805insTGT , CM000663.1:g.46657804_46657805insTGT	GRCh37
NC_000001.9:g.46430391_46430392insTGT	NCBI36
NG_009205.2:g.33173_33174insACA
NG_009205.3:g.33173_33174insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396420.8:c.1504_1505insACA (POMGNT1)	ENSP00000379698.4:p.Gly502delinsAspSer
ENST00000477114.2:n.2066_2067insACA (POMGNT1)
ENST00000497439.6:n.1676_1677insACA (POMGNT1)
ENST00000684817.1:n.1864_1865insACA (POMGNT1)
ENST00000684898.1:n.2066_2067insACA (POMGNT1)
ENST00000685230.1:c.*814_*815insACA (POMGNT1)	ENSP00000510305.1:n.*814_*815insACA
ENST00000685275.1:n.2051_2052insACA (POMGNT1)
ENST00000685444.1:c.1405_1406insACA (POMGNT1)	ENSP00000510762.1:p.Gly469delinsAspSer
ENST00000685704.1:n.2066_2067insACA (POMGNT1)
ENST00000685775.1:n.3031_3032insACA (POMGNT1)
ENST00000685833.1:n.2382_2383insACA (POMGNT1)
ENST00000686252.1:n.2578_2579insACA (POMGNT1)
ENST00000686379.1:c.*628_*629insACA (POMGNT1)	ENSP00000508913.1:n.*628_*629insACA
ENST00000686724.1:n.1676_1677insACA (POMGNT1)
ENST00000686737.1:c.1504_1505insACA (POMGNT1)	ENSP00000508736.1:p.Gly502delinsAspSer
ENST00000687112.1:n.2370_2371insACA (POMGNT1)
ENST00000687149.1:c.1504_1505insACA (POMGNT1)	ENSP00000509745.1:p.Gly502delinsAspSer
ENST00000687197.1:c.*444_*445insACA (POMGNT1)	ENSP00000510749.1:n.*444_*445insACA
ENST00000687235.1:n.2066_2067insACA (POMGNT1)
ENST00000687613.1:n.2254_2255insACA (POMGNT1)
ENST00000687683.1:c.1504_1505insACA (POMGNT1)	ENSP00000508522.1:p.Gly502delinsAspSer
ENST00000688032.1:n.2066_2067insACA (POMGNT1)
ENST00000688596.1:n.2155_2156insACA (POMGNT1)
ENST00000688608.1:c.1405_1406insACA (POMGNT1)	ENSP00000508890.1:p.Gly469delinsAspSer
ENST00000688919.1:n.2700_2701insACA (POMGNT1)
ENST00000689031.1:n.2066_2067insACA (POMGNT1)
ENST00000689717.1:n.1676_1677insACA (POMGNT1)
ENST00000689756.1:c.*1136_*1137insACA (POMGNT1)	ENSP00000509023.1:n.*1136_*1137insACA
ENST00000690377.1:n.1851_1852insACA (POMGNT1)
ENST00000690678.1:c.1504_1505insACA (POMGNT1)	ENSP00000508703.1:p.Gly502delinsAspSer
ENST00000691209.1:c.*444_*445insACA (POMGNT1)	ENSP00000510112.1:n.*444_*445insACA
ENST00000691243.1:c.1504_1505insACA (POMGNT1)	ENSP00000510654.1:p.Gly502delinsAspSer
ENST00000692169.1:n.1653_1654insACA (POMGNT1)
ENST00000692202.1:n.2079_2080insACA (POMGNT1)
ENST00000692322.1:c.*1356_*1357insACA (POMGNT1)	ENSP00000509017.1:n.*1356_*1357insACA
ENST00000692369.1:c.1504_1505insACA (POMGNT1)	ENSP00000508453.1:p.Gly502delinsAspSer
ENST00000692599.1:n.2066_2067insACA (POMGNT1)
ENST00000692635.1:c.*444_*445insACA (POMGNT1)	ENSP00000508425.1:n.*444_*445insACA
ENST00000693168.1:n.1765_1766insACA (POMGNT1)
ENST00000693218.1:c.1504_1505insACA (POMGNT1)	ENSP00000510577.1:p.Gly502delinsAspSer
ENST00000693223.1:n.2452_2453insACA (POMGNT1)
ENST00000693365.1:n.4138_4139insACA (POMGNT1)
ENST00000371984.8:c.1504_1505insACA (POMGNT1) MANE Select	ENSP00000361052.3:p.Gly502delinsAspSer
ENST00000371984.7:c.1504_1505insACA (POMGNT1)	ENSP00000361052.3:p.Gly502delinsAspSer
ENST00000371992.1:c.1504_1505insACA (POMGNT1)	ENSP00000361060.1:p.Gly502delinsAspSer
ENST00000396420.7:c.*1173_*1174insACA (POMGNT1)	ENSP00000379698.3:n.*1173_*1174insACA
ENST00000463030.1:n.125_126insACA (POMGNT1)
ENST00000485714.1:n.890_891insACA (POMGNT1)
NM_001243766.1:c.1504_1505insACA (POMGNT1)	NP_001230695.1:p.Gly502delinsAspSer
NM_001290129.1:c.1438_1439insACA (POMGNT1)	NP_001277058.1:p.Gly480delinsAspSer
NM_001290130.1:c.1075_1076insACA (POMGNT1)	NP_001277059.1:p.Gly359delinsAspSer
NM_017739.3:c.1504_1505insACA (POMGNT1)	NP_060209.3:p.Gly502delinsAspSer
XM_005271010.1:c.1504_1505insACA (POMGNT1)	XP_005271067.1:p.Gly502delinsAspSer
XM_006710755.1:c.1504_1505insACA (POMGNT1)	XP_006710818.1:p.Gly502delinsAspSer
XM_006710756.1:c.1504_1505insACA (POMGNT1)	XP_006710819.1:p.Gly502delinsAspSer
XM_011540460.1:c.679-4070_679-4069insTGT (TSPAN1)	XP_011538762.1:n.679-4070_679-4069insTGT
XM_011540461.1:c.634-4070_634-4069insTGT (TSPAN1)	XP_011538763.1:n.634-4070_634-4069insTGT
XM_011541759.1:c.1438_1439insACA (POMGNT1)	XP_011540061.1:p.Gly480delinsAspSer
XM_011541760.1:c.1438_1439insACA (POMGNT1)	XP_011540062.1:p.Gly480delinsAspSer
XM_011541761.1:c.412_413insACA (POMGNT1)	XP_011540063.1:p.Gly138delinsAspSer
XM_011540460.3:c.679-4070_679-4069insTGT (TSPAN1)	XP_011538762.1:n.679-4070_679-4069insTGT
XM_011541760.3:c.1438_1439insACA (POMGNT1)	XP_011540062.1:p.Gly480delinsAspSer
XM_017001690.1:c.1504_1505insACA (POMGNT1)	XP_016857179.1:p.Gly502delinsAspSer
NM_001243766.2:c.1504_1505insACA (POMGNT1)	NP_001230695.2:p.Gly502delinsAspSer
NM_001290129.2:c.1438_1439insACA (POMGNT1)	NP_001277058.2:p.Gly480delinsAspSer
NM_001290130.2:c.1075_1076insACA (POMGNT1)	NP_001277059.2:p.Gly359delinsAspSer
NM_017739.4:c.1504_1505insACA (POMGNT1) MANE Select	NP_060209.4:p.Gly502delinsAspSer