Canonical Allele Identifier: CA2740091661
Gene: TERT HGNC NCBI

Linked Data

ClinVar Variation Id: 2942562
ClinVar RCV Id: RCV003807728

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1294143_1294153del , CM000667.2:g.1294143_1294153del GRCh38
NC_000005.9:g.1294258_1294268del , CM000667.1:g.1294258_1294268del GRCh37
NC_000005.8:g.1347258_1347268del NCBI36
NG_009265.1:g.5897_5907del , LRG_343:g.5897_5907del

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.735_745del MANE Select ENSP00000309572.5:p.Glu245AspfsTer19
ENST00000656021.1:c.735_745del ENSP00000499759.1:p.Glu245AspfsTer19
ENST00000310581.9:c.735_745del ENSP00000309572.5:p.Glu245AspfsTer19
ENST00000334602.10:c.735_745del ENSP00000334346.6:p.Glu245AspfsTer19
ENST00000460137.6:c.735_745del ENSP00000425003.1:p.Glu245AspfsTer19
ENST00000508104.2:c.735_745del ENSP00000426042.2:p.Glu245AspfsTer19
NM_001193376.1:c.735_745del NP_001180305.1:p.Glu245AspfsTer19
NM_198253.2:c.735_745del , LRG_343t1:c.735_745del NP_937983.2:p.Glu245AspfsTer19
NR_149162.1:n.793_803del
NR_149163.1:n.793_803del
NM_001193376.2:c.735_745del NP_001180305.1:p.Glu245AspfsTer19
NM_198253.3:c.735_745del MANE Select NP_937983.2:p.Glu245AspfsTer19
NR_149162.2:n.814_824del
NR_149163.2:n.814_824del
NM_001193376.3:c.735_745del NP_001180305.1:p.Glu245AspfsTer19
NR_149162.3:n.814_824del
NR_149163.3:n.814_824del