Canonical Allele Identifier: CA658796497

Gene: TERT

Linked Data

• ClinVar Variation Id: 539192
• ClinVar RCV Id: RCV002509490 ; RCV002533369
• dbSNP Id: rs1554042899
• MyVariant Identifiers: chr5:g.1293952_1293953del (hg19) ; chr5:g.1293837_1293838del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1293841_1293842del , CM000667.2:g.1293841_1293842del	GRCh38
NC_000005.9:g.1293956_1293957del , CM000667.1:g.1293956_1293957del	GRCh37
NC_000005.8:g.1346956_1346957del	NCBI36
NG_009265.1:g.6210_6211del , LRG_343:g.6210_6211del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.1048_1049del MANE Select	ENSP00000309572.5:p.Leu350GlufsTer?
ENST00000656021.1:c.1048_1049del	ENSP00000499759.1:p.Leu350GlufsTer?
ENST00000310581.9:c.1048_1049del	ENSP00000309572.5:p.Leu350GlufsTer?
ENST00000334602.10:c.1048_1049del	ENSP00000334346.6:p.Leu350GlufsTer?
ENST00000460137.6:c.1048_1049del	ENSP00000425003.1:p.Leu350GlufsTer?
ENST00000508104.2:c.1048_1049del	ENSP00000426042.2:p.Leu350GlufsTer?
NM_001193376.1:c.1048_1049del	NP_001180305.1:p.Leu350GlufsTer?
NM_198253.2:c.1048_1049del , LRG_343t1:c.1048_1049del	NP_937983.2:p.Leu350GlufsTer?
NR_149162.1:n.1106_1107del
NR_149163.1:n.1106_1107del
NM_001193376.2:c.1048_1049del	NP_001180305.1:p.Leu350GlufsTer?
NM_198253.3:c.1048_1049del MANE Select	NP_937983.2:p.Leu350GlufsTer?
NR_149162.2:n.1127_1128del
NR_149163.2:n.1127_1128del
NM_001193376.3:c.1048_1049del	NP_001180305.1:p.Leu350GlufsTer?
NR_149162.3:n.1127_1128del
NR_149163.3:n.1127_1128del