Canonical Allele Identifier: CA2645439370
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Linked Data

gnomAD v4: 1-46190094-G-GTTATTT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46190096_46190097insATTTTT , CM000663.2:g.46190096_46190097insATTTTT GRCh38
NC_000001.10:g.46655768_46655769insATTTTT , CM000663.1:g.46655768_46655769insATTTTT GRCh37
NC_000001.9:g.46428355_46428356insATTTTT NCBI36
NG_009205.2:g.35211_35212insAAATAA
NG_009205.3:g.35211_35212insAAATAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000396420.8:c.1650-106_1650-105insAAATAA (POMGNT1) ENSP00000379698.4:n.1650-106_1650-105insAAATAA
ENST00000497439.6:n.1822-106_1822-105insAAATAA (POMGNT1)
ENST00000684817.1:n.2010-106_2010-105insAAATAA (POMGNT1)
ENST00000684898.1:n.2212-106_2212-105insAAATAA (POMGNT1)
ENST00000685230.1:c.*960-106_*960-105insAAATAA (POMGNT1) ENSP00000510305.1:n.*960-106_*960-105insAAATAA
ENST00000685275.1:n.2197-106_2197-105insAAATAA (POMGNT1)
ENST00000685444.1:c.1551-106_1551-105insAAATAA (POMGNT1) ENSP00000510762.1:n.1551-106_1551-105insAAATAA
ENST00000685704.1:n.2316-106_2316-105insAAATAA (POMGNT1)
ENST00000685833.1:n.4043-106_4043-105insAAATAA (POMGNT1)
ENST00000686252.1:n.2724-106_2724-105insAAATAA (POMGNT1)
ENST00000686379.1:c.*774-106_*774-105insAAATAA (POMGNT1) ENSP00000508913.1:n.*774-106_*774-105insAAATAA
ENST00000686724.1:n.3337-106_3337-105insAAATAA (POMGNT1)
ENST00000686737.1:c.1650-106_1650-105insAAATAA (POMGNT1) ENSP00000508736.1:n.1650-106_1650-105insAAATAA
ENST00000687112.1:n.2516-106_2516-105insAAATAA (POMGNT1)
ENST00000687149.1:c.1689-106_1689-105insAAATAA (POMGNT1) ENSP00000509745.1:n.1689-106_1689-105insAAATAA
ENST00000687197.1:c.*590-106_*590-105insAAATAA (POMGNT1) ENSP00000510749.1:n.*590-106_*590-105insAAATAA
ENST00000687235.1:n.3727-106_3727-105insAAATAA (POMGNT1)
ENST00000687613.1:n.2290-106_2290-105insAAATAA (POMGNT1)
ENST00000687683.1:c.1650-106_1650-105insAAATAA (POMGNT1) ENSP00000508522.1:n.1650-106_1650-105insAAATAA
ENST00000688032.1:n.2187-106_2187-105insAAATAA (POMGNT1)
ENST00000688596.1:n.2301-106_2301-105insAAATAA (POMGNT1)
ENST00000688608.1:c.1551-106_1551-105insAAATAA (POMGNT1) ENSP00000508890.1:n.1551-106_1551-105insAAATAA
ENST00000689031.1:n.2102-106_2102-105insAAATAA (POMGNT1)
ENST00000689756.1:c.*1282-106_*1282-105insAAATAA (POMGNT1) ENSP00000509023.1:n.*1282-106_*1282-105insAAATAA
ENST00000690377.1:n.1997-106_1997-105insAAATAA (POMGNT1)
ENST00000690678.1:c.1650-106_1650-105insAAATAA (POMGNT1) ENSP00000508703.1:n.1650-106_1650-105insAAATAA
ENST00000691209.1:c.*590-106_*590-105insAAATAA (POMGNT1) ENSP00000510112.1:n.*590-106_*590-105insAAATAA
ENST00000691243.1:c.*41-106_*41-105insAAATAA (POMGNT1) ENSP00000510654.1:n.*41-106_*41-105insAAATAA
ENST00000692202.1:n.2225-106_2225-105insAAATAA (POMGNT1)
ENST00000692322.1:c.*1437-106_*1437-105insAAATAA (POMGNT1) ENSP00000509017.1:n.*1437-106_*1437-105insAAATAA
ENST00000692369.1:c.1650-106_1650-105insAAATAA (POMGNT1) ENSP00000508453.1:n.1650-106_1650-105insAAATAA
ENST00000692599.1:n.3525-106_3525-105insAAATAA (POMGNT1)
ENST00000692635.1:c.*525-106_*525-105insAAATAA (POMGNT1) ENSP00000508425.1:n.*525-106_*525-105insAAATAA
ENST00000693168.1:n.3426-106_3426-105insAAATAA (POMGNT1)
ENST00000693218.1:c.*211-106_*211-105insAAATAA (POMGNT1) ENSP00000510577.1:n.*211-106_*211-105insAAATAA
ENST00000693223.1:n.2598-106_2598-105insAAATAA (POMGNT1)
ENST00000371984.8:c.1650-106_1650-105insAAATAA (POMGNT1) MANE Select ENSP00000361052.3:n.1650-106_1650-105insAAATAA
ENST00000371984.7:c.1650-106_1650-105insAAATAA (POMGNT1) ENSP00000361052.3:n.1650-106_1650-105insAAATAA
ENST00000371992.1:c.1650-106_1650-105insAAATAA (POMGNT1) ENSP00000361060.1:n.1650-106_1650-105insAAATAA
ENST00000396420.7:c.*1319-106_*1319-105insAAATAA (POMGNT1) ENSP00000379698.3:n.*1319-106_*1319-105insAAATAA
ENST00000480972.1:n.299-106_299-105insAAATAA (POMGNT1)
NM_001243766.1:c.1650-106_1650-105insAAATAA (POMGNT1) NP_001230695.1:n.1650-106_1650-105insAAATAA
NM_001290129.1:c.1584-106_1584-105insAAATAA (POMGNT1) NP_001277058.1:n.1584-106_1584-105insAAATAA
NM_001290130.1:c.1221-106_1221-105insAAATAA (POMGNT1) NP_001277059.1:n.1221-106_1221-105insAAATAA
NM_017739.3:c.1650-106_1650-105insAAATAA (POMGNT1) NP_060209.3:n.1650-106_1650-105insAAATAA
XM_005271010.1:c.1650-106_1650-105insAAATAA (POMGNT1) XP_005271067.1:n.1650-106_1650-105insAAATAA
XM_006710755.1:c.1650-106_1650-105insAAATAA (POMGNT1) XP_006710818.1:n.1650-106_1650-105insAAATAA
XM_006710756.1:c.1650-106_1650-105insAAATAA (POMGNT1) XP_006710819.1:n.1650-106_1650-105insAAATAA
XM_011540460.1:c.678+4788_678+4789insATTTTT (TSPAN1) XP_011538762.1:n.678+4788_678+4789insATTTTT
XM_011540461.1:c.633+4788_633+4789insATTTTT (TSPAN1) XP_011538763.1:n.633+4788_633+4789insATTTTT
XM_011541759.1:c.1584-106_1584-105insAAATAA (POMGNT1) XP_011540061.1:n.1584-106_1584-105insAAATAA
XM_011541760.1:c.1584-106_1584-105insAAATAA (POMGNT1) XP_011540062.1:n.1584-106_1584-105insAAATAA
XM_011541761.1:c.558-106_558-105insAAATAA (POMGNT1) XP_011540063.1:n.558-106_558-105insAAATAA
XM_011540460.3:c.678+4788_678+4789insATTTTT (TSPAN1) XP_011538762.1:n.678+4788_678+4789insATTTTT
XM_011541760.3:c.1584-106_1584-105insAAATAA (POMGNT1) XP_011540062.1:n.1584-106_1584-105insAAATAA
XM_017001690.1:c.1650-106_1650-105insAAATAA (POMGNT1) XP_016857179.1:n.1650-106_1650-105insAAATAA
NM_001243766.2:c.1650-106_1650-105insAAATAA (POMGNT1) NP_001230695.2:n.1650-106_1650-105insAAATAA
NM_001290129.2:c.1584-106_1584-105insAAATAA (POMGNT1) NP_001277058.2:n.1584-106_1584-105insAAATAA
NM_001290130.2:c.1221-106_1221-105insAAATAA (POMGNT1) NP_001277059.2:n.1221-106_1221-105insAAATAA
NM_017739.4:c.1650-106_1650-105insAAATAA (POMGNT1) MANE Select NP_060209.4:n.1650-106_1650-105insAAATAA
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