Canonical Allele Identifier: CA2673080625
Gene: TERT HGNC NCBI

Linked Data

gnomAD v4: 5-1293720-AT-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1293723del , CM000667.2:g.1293723del GRCh38
NC_000005.9:g.1293838del , CM000667.1:g.1293838del GRCh37
NC_000005.8:g.1346838del NCBI36
NG_009265.1:g.6327del , LRG_343:g.6327del

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.1165del MANE Select ENSP00000309572.5:p.Met389CysfsTer?
ENST00000656021.1:c.1165del ENSP00000499759.1:p.Met389CysfsTer?
ENST00000310581.9:c.1165del ENSP00000309572.5:p.Met389CysfsTer?
ENST00000334602.10:c.1165del ENSP00000334346.6:p.Met389CysfsTer?
ENST00000460137.6:c.1165del ENSP00000425003.1:p.Met389CysfsTer?
ENST00000508104.2:c.1165del ENSP00000426042.2:p.Met389CysfsTer?
NM_001193376.1:c.1165del NP_001180305.1:p.Met389CysfsTer?
NM_198253.2:c.1165del , LRG_343t1:c.1165del NP_937983.2:p.Met389CysfsTer?
NR_149162.1:n.1223del
NR_149163.1:n.1223del
NM_001193376.2:c.1165del NP_001180305.1:p.Met389CysfsTer?
NM_198253.3:c.1165del MANE Select NP_937983.2:p.Met389CysfsTer?
NR_149162.2:n.1244del
NR_149163.2:n.1244del
NM_001193376.3:c.1165del NP_001180305.1:p.Met389CysfsTer?
NR_149162.3:n.1244del
NR_149163.3:n.1244del