Canonical Allele Identifier: CA658657264
Community Standard Title: NM_182916.3(TRNT1):c.373del (p.Leu125TyrfsTer14)
Gene: TRNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.3140540del , CM000665.2:g.3140540del GRCh38
NC_000003.11:g.3182224del , CM000665.1:g.3182224del GRCh37
NC_000003.10:g.3157224del NCBI36
NG_041800.1:g.18625del
NG_041800.2:g.18625del

Transcript Alleles

HGVS Amino-acid Change
NM_182916.3:c.373del MANE Select NP_886552.3:p.Leu125TyrfsTer14
ENST00000251607.11:c.373del MANE Select ENSP00000251607.6:p.Leu125TyrfsTer14
NM_001302946.1:c.373del NP_001289875.1:p.Leu125TyrfsTer14
NM_001302946.2:c.373del NP_001289875.2:p.Leu125TyrfsTer14
NM_001367321.1:c.373del NP_001354250.1:p.Leu125TyrfsTer14
NM_001367322.1:c.373del NP_001354251.1:p.Leu125TyrfsTer14
NM_001367323.1:c.373del NP_001354252.1:p.Leu125TyrfsTer14
NM_182916.2:c.373del NP_886552.2:p.Leu125TyrfsTer14
NR_159934.1:n.451del
NR_159935.1:n.451del
NR_159936.1:n.451del
NR_159937.1:n.1479del
NR_159938.1:n.451del
NR_159939.1:n.420+3087del
NR_159940.1:n.420+3087del
NR_159941.1:n.1479del
ENST00000251607.10:c.373del ENSP00000251607.6:p.Leu125TyrfsTer14
ENST00000280591.10:c.373del ENSP00000280591.6:p.Leu125TyrfsTer14
ENST00000397779.3:c.373del ENSP00000380881.3:p.Leu125TyrfsTer14
ENST00000434583.5:c.373del ENSP00000415100.1:p.Leu125TyrfsTer14
ENST00000482311.1:n.259del
ENST00000650755.1:c.*23del ENSP00000499122.1:n.*23del
ENST00000650814.1:c.129del
ENST00000650839.1:c.373del ENSP00000498970.1:p.Leu125TyrfsTer14
ENST00000650989.1:n.222+3087del
ENST00000651093.1:c.373del ENSP00000498942.1:p.Leu125TyrfsTer14
ENST00000651316.1:c.*20+830del ENSP00000498787.1:n.*20+830del
ENST00000651352.1:c.342+3087del ENSP00000498449.1:n.342+3087del
ENST00000651591.1:c.*297del ENSP00000498240.1:n.*297del
ENST00000652340.1:c.1del ENSP00000498624.1:p.Leu1TyrfsTer14
ENST00000698406.1:c.373del ENSP00000513700.1:p.Leu125TyrfsTer14
ENST00000698407.1:n.1002del
ENST00000698408.1:c.373del ENSP00000513701.1:p.Leu125TyrfsTer14
ENST00000698409.1:n.440del
ENST00000698410.1:c.342+3087del ENSP00000513703.1:n.342+3087del
ENST00000698412.1:c.373del ENSP00000513705.1:p.Leu125TyrfsTer14
ENST00000698413.1:c.490del ENSP00000513706.1:p.Leu164TyrfsTer14
ENST00000698414.1:c.490del ENSP00000513707.1:p.Leu164TyrfsTer14
ENST00000698415.1:n.1734del
XM_005265196.1:c.373del XP_005265253.1:p.Leu125TyrfsTer14
XM_011533776.1:c.373del XP_011532078.1:p.Leu125TyrfsTer14
XM_011533776.3:c.373del XP_011532078.1:p.Leu125TyrfsTer14
XM_011533777.1:c.373del XP_011532079.1:p.Leu125TyrfsTer14
XM_011533777.2:c.373del XP_011532079.1:p.Leu125TyrfsTer14
XM_011533778.1:c.373del XP_011532080.1:p.Leu125TyrfsTer14
XM_011533778.3:c.373del XP_011532080.1:p.Leu125TyrfsTer14
XR_001740168.2:n.454del
XR_001740169.2:n.454del
XR_940445.1:n.475del
XR_940445.3:n.454del
XR_940446.1:n.475del
XR_940446.3:n.454del