Canonical Allele Identifier: CA2580072154

Gene: TERT

Linked Data

• ClinVar Variation Id: 2016389
• ClinVar RCV Id: RCV002843876

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1294099_1294100delinsTT , CM000667.2:g.1294099_1294100delinsTT	GRCh38
NC_000005.9:g.1294214_1294215delinsTT , CM000667.1:g.1294214_1294215delinsTT	GRCh37
NC_000005.8:g.1347214_1347215delinsTT	NCBI36
NG_009265.1:g.5948_5949delinsAA , LRG_343:g.5948_5949delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.786_787delinsAA MANE Select	ENSP00000309572.5:p.Arg263Ser
ENST00000656021.1:c.786_787delinsAA	ENSP00000499759.1:p.Arg263Ser
ENST00000310581.9:c.786_787delinsAA	ENSP00000309572.5:p.Arg263Ser
ENST00000334602.10:c.786_787delinsAA	ENSP00000334346.6:p.Arg263Ser
ENST00000460137.6:c.786_787delinsAA	ENSP00000425003.1:p.Arg263Ser
ENST00000508104.2:c.786_787delinsAA	ENSP00000426042.2:p.Arg263Ser
NM_001193376.1:c.786_787delinsAA	NP_001180305.1:p.Arg263Ser
NM_198253.2:c.786_787delinsAA , LRG_343t1:c.786_787delinsAA	NP_937983.2:p.Arg263Ser
NR_149162.1:n.844_845delinsAA
NR_149163.1:n.844_845delinsAA
NM_001193376.2:c.786_787delinsAA	NP_001180305.1:p.Arg263Ser
NM_198253.3:c.786_787delinsAA MANE Select	NP_937983.2:p.Arg263Ser
NR_149162.2:n.865_866delinsAA
NR_149163.2:n.865_866delinsAA
NM_001193376.3:c.786_787delinsAA	NP_001180305.1:p.Arg263Ser
NR_149162.3:n.865_866delinsAA
NR_149163.3:n.865_866delinsAA