Canonical Allele Identifier: CA2708194068
Gene: TERT HGNC NCBI

Linked Data

dbSNP Id: rs2126683831

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1293372del , CM000667.2:g.1293372del GRCh38
NC_000005.9:g.1293487del , CM000667.1:g.1293487del GRCh37
NC_000005.8:g.1346487del NCBI36
NG_009265.1:g.6676del , LRG_343:g.6676del

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.1514del MANE Select ENSP00000309572.5:p.Leu505ArgfsTer4
ENST00000656021.1:c.1514del ENSP00000499759.1:p.Leu505ArgfsTer4
ENST00000310581.9:c.1514del ENSP00000309572.5:p.Leu505ArgfsTer4
ENST00000334602.10:c.1514del ENSP00000334346.6:p.Leu505ArgfsTer4
ENST00000460137.6:c.1514del ENSP00000425003.1:p.Leu505ArgfsTer4
ENST00000508104.2:c.1514del ENSP00000426042.2:p.Leu505ArgfsTer4
NM_001193376.1:c.1514del NP_001180305.1:p.Leu505ArgfsTer4
NM_198253.2:c.1514del , LRG_343t1:c.1514del NP_937983.2:p.Leu505ArgfsTer4
NR_149162.1:n.1572del
NR_149163.1:n.1572del
NM_001193376.2:c.1514del NP_001180305.1:p.Leu505ArgfsTer4
NM_198253.3:c.1514del MANE Select NP_937983.2:p.Leu505ArgfsTer4
NR_149162.2:n.1593del
NR_149163.2:n.1593del
NM_001193376.3:c.1514del NP_001180305.1:p.Leu505ArgfsTer4
NR_149162.3:n.1593del
NR_149163.3:n.1593del