Canonical Allele Identifier: CA2580072016
Gene: TERT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1271154_1271156delinsACA , CM000667.2:g.1271154_1271156delinsACA GRCh38
NC_000005.9:g.1271269_1271271delinsACA , CM000667.1:g.1271269_1271271delinsACA GRCh37
NC_000005.8:g.1324269_1324271delinsACA NCBI36
NG_009265.1:g.28892_28894delinsTGT , LRG_343:g.28892_28894delinsTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.2431_2433delinsTGT MANE Select ENSP00000309572.5:p.Arg811Cys
ENST00000656021.1:c.*1977_*1979delinsTGT ENSP00000499759.1:n.*1977_*1979delinsTGT
ENST00000310581.9:c.2431_2433delinsTGT ENSP00000309572.5:p.Arg811Cys
ENST00000334602.10:c.2431_2433delinsTGT ENSP00000334346.6:p.Arg811Cys
ENST00000460137.6:c.2251-2523_2251-2521delinsTGT ENSP00000425003.1:n.2251-2523_2251-2521delinsTGT
ENST00000484238.6:n.1100-2523_1100-2521delinsTGT
ENST00000508104.2:c.2287-2523_2287-2521delinsTGT ENSP00000426042.2:n.2287-2523_2287-2521delinsTGT
NM_001193376.1:c.2431_2433delinsTGT NP_001180305.1:p.Arg811Cys
NM_198253.2:c.2431_2433delinsTGT , LRG_343t1:c.2431_2433delinsTGT NP_937983.2:p.Arg811Cys
XM_011514104.1:c.901_903delinsTGT XP_011512406.1:p.Arg301Cys
XM_011514105.1:c.787_789delinsTGT XP_011512407.1:p.Arg263Cys
XM_011514106.1:c.787_789delinsTGT XP_011512408.1:p.Arg263Cys
NR_149162.1:n.2345-2523_2345-2521delinsTGT
NR_149163.1:n.2309-2523_2309-2521delinsTGT
NM_001193376.2:c.2431_2433delinsTGT NP_001180305.1:p.Arg811Cys
NM_198253.3:c.2431_2433delinsTGT MANE Select NP_937983.2:p.Arg811Cys
NR_149162.2:n.2366-2523_2366-2521delinsTGT
NR_149163.2:n.2330-2523_2330-2521delinsTGT
NM_001193376.3:c.2431_2433delinsTGT NP_001180305.1:p.Arg811Cys
NR_149162.3:n.2366-2523_2366-2521delinsTGT
NR_149163.3:n.2330-2523_2330-2521delinsTGT