Canonical Allele Identifier: CA2645439418
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Linked Data

gnomAD v4: 1-46190116-T-TTTTTTTTG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46190116_46190117insTTTTTTTG , CM000663.2:g.46190116_46190117insTTTTTTTG GRCh38
NC_000001.10:g.46655788_46655789insTTTTTTTG , CM000663.1:g.46655788_46655789insTTTTTTTG GRCh37
NC_000001.9:g.46428375_46428376insTTTTTTTG NCBI36
NG_009205.2:g.35189_35190insCAAAAAAA
NG_009205.3:g.35189_35190insCAAAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1650-128_1650-127insCAAAAAAA (POMGNT1) ENSP00000379698.4:n.1650-128_1650-127insCAAAAAAA
ENST00000497439.6:n.1822-128_1822-127insCAAAAAAA (POMGNT1)
ENST00000684817.1:n.2010-128_2010-127insCAAAAAAA (POMGNT1)
ENST00000684898.1:n.2212-128_2212-127insCAAAAAAA (POMGNT1)
ENST00000685230.1:c.*960-128_*960-127insCAAAAAAA (POMGNT1) ENSP00000510305.1:n.*960-128_*960-127insCAAAAAAA
ENST00000685275.1:n.2197-128_2197-127insCAAAAAAA (POMGNT1)
ENST00000685444.1:c.1551-128_1551-127insCAAAAAAA (POMGNT1) ENSP00000510762.1:n.1551-128_1551-127insCAAAAAAA
ENST00000685704.1:n.2316-128_2316-127insCAAAAAAA (POMGNT1)
ENST00000685833.1:n.4043-128_4043-127insCAAAAAAA (POMGNT1)
ENST00000686252.1:n.2724-128_2724-127insCAAAAAAA (POMGNT1)
ENST00000686379.1:c.*774-128_*774-127insCAAAAAAA (POMGNT1) ENSP00000508913.1:n.*774-128_*774-127insCAAAAAAA
ENST00000686724.1:n.3337-128_3337-127insCAAAAAAA (POMGNT1)
ENST00000686737.1:c.1650-128_1650-127insCAAAAAAA (POMGNT1) ENSP00000508736.1:n.1650-128_1650-127insCAAAAAAA
ENST00000687112.1:n.2516-128_2516-127insCAAAAAAA (POMGNT1)
ENST00000687149.1:c.1689-128_1689-127insCAAAAAAA (POMGNT1) ENSP00000509745.1:n.1689-128_1689-127insCAAAAAAA
ENST00000687197.1:c.*590-128_*590-127insCAAAAAAA (POMGNT1) ENSP00000510749.1:n.*590-128_*590-127insCAAAAAAA
ENST00000687235.1:n.3727-128_3727-127insCAAAAAAA (POMGNT1)
ENST00000687613.1:n.2290-128_2290-127insCAAAAAAA (POMGNT1)
ENST00000687683.1:c.1650-128_1650-127insCAAAAAAA (POMGNT1) ENSP00000508522.1:n.1650-128_1650-127insCAAAAAAA
ENST00000688032.1:n.2187-128_2187-127insCAAAAAAA (POMGNT1)
ENST00000688596.1:n.2301-128_2301-127insCAAAAAAA (POMGNT1)
ENST00000688608.1:c.1551-128_1551-127insCAAAAAAA (POMGNT1) ENSP00000508890.1:n.1551-128_1551-127insCAAAAAAA
ENST00000689031.1:n.2102-128_2102-127insCAAAAAAA (POMGNT1)
ENST00000689756.1:c.*1282-128_*1282-127insCAAAAAAA (POMGNT1) ENSP00000509023.1:n.*1282-128_*1282-127insCAAAAAAA
ENST00000690377.1:n.1997-128_1997-127insCAAAAAAA (POMGNT1)
ENST00000690678.1:c.1650-128_1650-127insCAAAAAAA (POMGNT1) ENSP00000508703.1:n.1650-128_1650-127insCAAAAAAA
ENST00000691209.1:c.*590-128_*590-127insCAAAAAAA (POMGNT1) ENSP00000510112.1:n.*590-128_*590-127insCAAAAAAA
ENST00000691243.1:c.*41-128_*41-127insCAAAAAAA (POMGNT1) ENSP00000510654.1:n.*41-128_*41-127insCAAAAAAA
ENST00000692202.1:n.2225-128_2225-127insCAAAAAAA (POMGNT1)
ENST00000692322.1:c.*1437-128_*1437-127insCAAAAAAA (POMGNT1) ENSP00000509017.1:n.*1437-128_*1437-127insCAAAAAAA
ENST00000692369.1:c.1650-128_1650-127insCAAAAAAA (POMGNT1) ENSP00000508453.1:n.1650-128_1650-127insCAAAAAAA
ENST00000692599.1:n.3525-128_3525-127insCAAAAAAA (POMGNT1)
ENST00000692635.1:c.*525-128_*525-127insCAAAAAAA (POMGNT1) ENSP00000508425.1:n.*525-128_*525-127insCAAAAAAA
ENST00000693168.1:n.3426-128_3426-127insCAAAAAAA (POMGNT1)
ENST00000693218.1:c.*211-128_*211-127insCAAAAAAA (POMGNT1) ENSP00000510577.1:n.*211-128_*211-127insCAAAAAAA
ENST00000693223.1:n.2598-128_2598-127insCAAAAAAA (POMGNT1)
ENST00000371984.8:c.1650-128_1650-127insCAAAAAAA (POMGNT1) MANE Select ENSP00000361052.3:n.1650-128_1650-127insCAAAAAAA
ENST00000371984.7:c.1650-128_1650-127insCAAAAAAA (POMGNT1) ENSP00000361052.3:n.1650-128_1650-127insCAAAAAAA
ENST00000371992.1:c.1650-128_1650-127insCAAAAAAA (POMGNT1) ENSP00000361060.1:n.1650-128_1650-127insCAAAAAAA
ENST00000396420.7:c.*1319-128_*1319-127insCAAAAAAA (POMGNT1) ENSP00000379698.3:n.*1319-128_*1319-127insCAAAAAAA
ENST00000480972.1:n.299-128_299-127insCAAAAAAA (POMGNT1)
NM_001243766.1:c.1650-128_1650-127insCAAAAAAA (POMGNT1) NP_001230695.1:n.1650-128_1650-127insCAAAAAAA
NM_001290129.1:c.1584-128_1584-127insCAAAAAAA (POMGNT1) NP_001277058.1:n.1584-128_1584-127insCAAAAAAA
NM_001290130.1:c.1221-128_1221-127insCAAAAAAA (POMGNT1) NP_001277059.1:n.1221-128_1221-127insCAAAAAAA
NM_017739.3:c.1650-128_1650-127insCAAAAAAA (POMGNT1) NP_060209.3:n.1650-128_1650-127insCAAAAAAA
XM_005271010.1:c.1650-128_1650-127insCAAAAAAA (POMGNT1) XP_005271067.1:n.1650-128_1650-127insCAAAAAAA
XM_006710755.1:c.1650-128_1650-127insCAAAAAAA (POMGNT1) XP_006710818.1:n.1650-128_1650-127insCAAAAAAA
XM_006710756.1:c.1650-128_1650-127insCAAAAAAA (POMGNT1) XP_006710819.1:n.1650-128_1650-127insCAAAAAAA
XM_011540460.1:c.678+4808_678+4809insTTTTTTTG (TSPAN1) XP_011538762.1:n.678+4808_678+4809insTTTTTTTG
XM_011540461.1:c.633+4808_633+4809insTTTTTTTG (TSPAN1) XP_011538763.1:n.633+4808_633+4809insTTTTTTTG
XM_011541759.1:c.1584-128_1584-127insCAAAAAAA (POMGNT1) XP_011540061.1:n.1584-128_1584-127insCAAAAAAA
XM_011541760.1:c.1584-128_1584-127insCAAAAAAA (POMGNT1) XP_011540062.1:n.1584-128_1584-127insCAAAAAAA
XM_011541761.1:c.558-128_558-127insCAAAAAAA (POMGNT1) XP_011540063.1:n.558-128_558-127insCAAAAAAA
XM_011540460.3:c.678+4808_678+4809insTTTTTTTG (TSPAN1) XP_011538762.1:n.678+4808_678+4809insTTTTTTTG
XM_011541760.3:c.1584-128_1584-127insCAAAAAAA (POMGNT1) XP_011540062.1:n.1584-128_1584-127insCAAAAAAA
XM_017001690.1:c.1650-128_1650-127insCAAAAAAA (POMGNT1) XP_016857179.1:n.1650-128_1650-127insCAAAAAAA
NM_001243766.2:c.1650-128_1650-127insCAAAAAAA (POMGNT1) NP_001230695.2:n.1650-128_1650-127insCAAAAAAA
NM_001290129.2:c.1584-128_1584-127insCAAAAAAA (POMGNT1) NP_001277058.2:n.1584-128_1584-127insCAAAAAAA
NM_001290130.2:c.1221-128_1221-127insCAAAAAAA (POMGNT1) NP_001277059.2:n.1221-128_1221-127insCAAAAAAA
NM_017739.4:c.1650-128_1650-127insCAAAAAAA (POMGNT1) MANE Select NP_060209.4:n.1650-128_1650-127insCAAAAAAA
Search 100 bp 5'
Search 100 bp 3'