Canonical Allele Identifier: CA2673080619
Gene: TERT HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1293556_1293559dup , CM000667.2:g.1293556_1293559dup GRCh38
NC_000005.9:g.1293671_1293674dup , CM000667.1:g.1293671_1293674dup GRCh37
NC_000005.8:g.1346671_1346674dup NCBI36
NG_009265.1:g.6491_6494dup , LRG_343:g.6491_6494dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.1329_1332dup MANE Select ENSP00000309572.5:p.Pro445ArgfsTer?
ENST00000656021.1:c.1329_1332dup ENSP00000499759.1:p.Pro445ArgfsTer?
ENST00000310581.9:c.1329_1332dup ENSP00000309572.5:p.Pro445ArgfsTer?
ENST00000334602.10:c.1329_1332dup ENSP00000334346.6:p.Pro445ArgfsTer?
ENST00000460137.6:c.1329_1332dup ENSP00000425003.1:p.Pro445ArgfsTer?
ENST00000508104.2:c.1329_1332dup ENSP00000426042.2:p.Pro445ArgfsTer?
NM_001193376.1:c.1329_1332dup NP_001180305.1:p.Pro445ArgfsTer?
NM_198253.2:c.1329_1332dup , LRG_343t1:c.1329_1332dup NP_937983.2:p.Pro445ArgfsTer?
NR_149162.1:n.1387_1390dup
NR_149163.1:n.1387_1390dup
NM_001193376.2:c.1329_1332dup NP_001180305.1:p.Pro445ArgfsTer?
NM_198253.3:c.1329_1332dup MANE Select NP_937983.2:p.Pro445ArgfsTer?
NR_149162.2:n.1408_1411dup
NR_149163.2:n.1408_1411dup
NM_001193376.3:c.1329_1332dup NP_001180305.1:p.Pro445ArgfsTer?
NR_149162.3:n.1408_1411dup
NR_149163.3:n.1408_1411dup