Canonical Allele Identifier: CA1522556923

Gene: TERT

Linked Data

• ClinVar Variation Id: 1998799
• ClinVar RCV Id: RCV002814921
• dbSNP Id: rs1751202314

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1294079dup , CM000667.2:g.1294079dup	GRCh38
NC_000005.9:g.1294194dup , CM000667.1:g.1294194dup	GRCh37
NC_000005.8:g.1347194dup	NCBI36
NG_009265.1:g.5971dup , LRG_343:g.5971dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.809dup MANE Select	ENSP00000309572.5:p.Cys271LeufsTer?
ENST00000656021.1:c.809dup	ENSP00000499759.1:p.Cys271LeufsTer?
ENST00000310581.9:c.809dup	ENSP00000309572.5:p.Cys271LeufsTer?
ENST00000334602.10:c.809dup	ENSP00000334346.6:p.Cys271LeufsTer?
ENST00000460137.6:c.809dup	ENSP00000425003.1:p.Cys271LeufsTer?
ENST00000508104.2:c.809dup	ENSP00000426042.2:p.Cys271LeufsTer?
NM_001193376.1:c.809dup	NP_001180305.1:p.Cys271LeufsTer?
NM_198253.2:c.809dup , LRG_343t1:c.809dup	NP_937983.2:p.Cys271LeufsTer?
NR_149162.1:n.867dup
NR_149163.1:n.867dup
NM_001193376.2:c.809dup	NP_001180305.1:p.Cys271LeufsTer?
NM_198253.3:c.809dup MANE Select	NP_937983.2:p.Cys271LeufsTer?
NR_149162.2:n.888dup
NR_149163.2:n.888dup
NM_001193376.3:c.809dup	NP_001180305.1:p.Cys271LeufsTer?
NR_149162.3:n.888dup
NR_149163.3:n.888dup