Canonical Allele Identifier: CA2740091666

Gene: TERT

Linked Data

• ClinVar Variation Id: 2943139
• ClinVar RCV Id: RCV003800257

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1294893_1294902del , CM000667.2:g.1294893_1294902del	GRCh38
NC_000005.9:g.1295008_1295017del , CM000667.1:g.1295008_1295017del	GRCh37
NC_000005.8:g.1348008_1348017del	NCBI36
NG_009265.1:g.5147_5156del , LRG_343:g.5147_5156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.89_98del MANE Select	ENSP00000309572.5:p.Arg30ProfsTer?
ENST00000656021.1:c.89_98del	ENSP00000499759.1:p.Arg30ProfsTer?
ENST00000310581.9:c.89_98del	ENSP00000309572.5:p.Arg30ProfsTer?
ENST00000334602.10:c.89_98del	ENSP00000334346.6:p.Arg30ProfsTer?
ENST00000460137.6:c.89_98del	ENSP00000425003.1:p.Arg30ProfsTer?
ENST00000508104.2:c.89_98del	ENSP00000426042.2:p.Arg30ProfsTer?
ENST00000522877.1:n.169_178del
NM_001193376.1:c.89_98del	NP_001180305.1:p.Arg30ProfsTer?
NM_198253.2:c.89_98del , LRG_343t1:c.89_98del	NP_937983.2:p.Arg30ProfsTer?
NR_149162.1:n.147_156del
NR_149163.1:n.147_156del
NM_001193376.2:c.89_98del	NP_001180305.1:p.Arg30ProfsTer?
NM_198253.3:c.89_98del MANE Select	NP_937983.2:p.Arg30ProfsTer?
NR_149162.2:n.168_177del
NR_149163.2:n.168_177del
NM_001193376.3:c.89_98del	NP_001180305.1:p.Arg30ProfsTer?
NR_149162.3:n.168_177del
NR_149163.3:n.168_177del