Canonical Allele Identifier: CA16040744
Gene: POMGNT1 HGNC NCBI
TSPAN1 HGNC NCBI

Linked Data

dbSNP Id: rs1057516903

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46189946_46189947del , CM000663.2:g.46189946_46189947del GRCh38
NC_000001.10:g.46655618_46655619del , CM000663.1:g.46655618_46655619del GRCh37
NC_000001.9:g.46428205_46428206del NCBI36
NG_009205.2:g.35361_35362del
NG_009205.3:g.35361_35362del

Transcript Alleles

HGVS Amino-acid change
ENST00000396420.8:c.1694_1695del (POMGNT1) ENSP00000379698.4:p.Ser565PhefsTer20
ENST00000497439.6:n.1866_1867del (POMGNT1)
ENST00000684817.1:n.2054_2055del (POMGNT1)
ENST00000684898.1:n.2256_2257del (POMGNT1)
ENST00000685230.1:c.*1004_*1005del (POMGNT1) ENSP00000510305.1:n.*1004_*1005del
ENST00000685275.1:n.2241_2242del (POMGNT1)
ENST00000685444.1:c.1595_1596del (POMGNT1) ENSP00000510762.1:p.Ser532PhefsTer20
ENST00000685704.1:n.2360_2361del (POMGNT1)
ENST00000685833.1:n.4087_4088del (POMGNT1)
ENST00000686252.1:n.2768_2769del (POMGNT1)
ENST00000686379.1:c.*818_*819del (POMGNT1) ENSP00000508913.1:n.*818_*819del
ENST00000686724.1:n.3381_3382del (POMGNT1)
ENST00000686737.1:c.1694_1695del (POMGNT1) ENSP00000508736.1:p.Ser565PhefsTer20
ENST00000687112.1:n.2560_2561del (POMGNT1)
ENST00000687149.1:c.1733_1734del (POMGNT1) ENSP00000509745.1:p.Ser578PhefsTer20
ENST00000687197.1:c.*634_*635del (POMGNT1) ENSP00000510749.1:n.*634_*635del
ENST00000687235.1:n.3771_3772del (POMGNT1)
ENST00000687613.1:n.2334_2335del (POMGNT1)
ENST00000687683.1:c.1694_1695del (POMGNT1) ENSP00000508522.1:p.Ser565PhefsTer20
ENST00000688032.1:n.2231_2232del (POMGNT1)
ENST00000688596.1:n.2345_2346del (POMGNT1)
ENST00000688608.1:c.1595_1596del (POMGNT1) ENSP00000508890.1:p.Ser532PhefsTer20
ENST00000689031.1:n.2146_2147del (POMGNT1)
ENST00000689756.1:c.*1326_*1327del (POMGNT1) ENSP00000509023.1:n.*1326_*1327del
ENST00000690377.1:n.2041_2042del (POMGNT1)
ENST00000690678.1:c.1694_1695del (POMGNT1) ENSP00000508703.1:p.Ser565PhefsTer20
ENST00000691209.1:c.*634_*635del (POMGNT1) ENSP00000510112.1:n.*634_*635del
ENST00000691243.1:c.*85_*86del (POMGNT1) ENSP00000510654.1:n.*85_*86del
ENST00000692202.1:n.2269_2270del (POMGNT1)
ENST00000692322.1:c.*1481_*1482del (POMGNT1) ENSP00000509017.1:n.*1481_*1482del
ENST00000692369.1:c.1694_1695del (POMGNT1) ENSP00000508453.1:p.Ser565PhefsTer20
ENST00000692599.1:n.3569_3570del (POMGNT1)
ENST00000692635.1:c.*569_*570del (POMGNT1) ENSP00000508425.1:n.*569_*570del
ENST00000693168.1:n.3470_3471del (POMGNT1)
ENST00000693218.1:c.*255_*256del (POMGNT1) ENSP00000510577.1:n.*255_*256del
ENST00000693223.1:n.2642_2643del (POMGNT1)
ENST00000371984.8:c.1694_1695del (POMGNT1) MANE Select ENSP00000361052.3:p.Ser565PhefsTer20
ENST00000371984.7:c.1694_1695del (POMGNT1) ENSP00000361052.3:p.Ser565PhefsTer20
ENST00000371992.1:c.1694_1695del (POMGNT1) ENSP00000361060.1:p.Ser565PhefsTer20
ENST00000396420.7:c.*1363_*1364del (POMGNT1) ENSP00000379698.3:n.*1363_*1364del
ENST00000480972.1:n.343_344del (POMGNT1)
NM_001243766.1:c.1694_1695del (POMGNT1) NP_001230695.1:p.Ser565PhefsTer20
NM_001290129.1:c.1628_1629del (POMGNT1) NP_001277058.1:p.Ser543PhefsTer20
NM_001290130.1:c.1265_1266del (POMGNT1) NP_001277059.1:p.Ser422PhefsTer20
NM_017739.3:c.1694_1695del (POMGNT1) NP_060209.3:p.Ser565PhefsTer20
XM_005271010.1:c.1694_1695del (POMGNT1) XP_005271067.1:p.Ser565PhefsTer20
XM_006710755.1:c.1694_1695del (POMGNT1) XP_006710818.1:p.Ser565PhefsTer20
XM_006710756.1:c.1694_1695del (POMGNT1) XP_006710819.1:p.Ser565PhefsTer20
XM_011540460.1:c.678+4638_678+4639del (TSPAN1) XP_011538762.1:n.678+4638_678+4639del
XM_011540461.1:c.633+4638_633+4639del (TSPAN1) XP_011538763.1:n.633+4638_633+4639del
XM_011541759.1:c.1628_1629del (POMGNT1) XP_011540061.1:p.Ser543PhefsTer20
XM_011541760.1:c.1628_1629del (POMGNT1) XP_011540062.1:p.Ser543PhefsTer20
XM_011541761.1:c.602_603del (POMGNT1) XP_011540063.1:p.Ser201PhefsTer20
XM_011540460.3:c.678+4638_678+4639del (TSPAN1) XP_011538762.1:n.678+4638_678+4639del
XM_011541760.3:c.1628_1629del (POMGNT1) XP_011540062.1:p.Ser543PhefsTer20
XM_017001690.1:c.1694_1695del (POMGNT1) XP_016857179.1:p.Ser565PhefsTer20
NM_001243766.2:c.1694_1695del (POMGNT1) NP_001230695.2:p.Ser565PhefsTer20
NM_001290129.2:c.1628_1629del (POMGNT1) NP_001277058.2:p.Ser543PhefsTer20
NM_001290130.2:c.1265_1266del (POMGNT1) NP_001277059.2:p.Ser422PhefsTer20
NM_017739.4:c.1694_1695del (POMGNT1) MANE Select NP_060209.4:p.Ser565PhefsTer20