Canonical Allele Identifier: CA2580071975

Gene: TERT

Linked Data

• ClinVar Variation Id: 2056248
• ClinVar RCV Id: RCV002914556

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1293507del , CM000667.2:g.1293507del	GRCh38
NC_000005.9:g.1293622del , CM000667.1:g.1293622del	GRCh37
NC_000005.8:g.1346622del	NCBI36
NG_009265.1:g.6541del , LRG_343:g.6541del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.1379del MANE Select	ENSP00000309572.5:p.Gln460ArgfsTer?
ENST00000656021.1:c.1379del	ENSP00000499759.1:p.Gln460ArgfsTer?
ENST00000310581.9:c.1379del	ENSP00000309572.5:p.Gln460ArgfsTer?
ENST00000334602.10:c.1379del	ENSP00000334346.6:p.Gln460ArgfsTer?
ENST00000460137.6:c.1379del	ENSP00000425003.1:p.Gln460ArgfsTer?
ENST00000508104.2:c.1379del	ENSP00000426042.2:p.Gln460ArgfsTer?
NM_001193376.1:c.1379del	NP_001180305.1:p.Gln460ArgfsTer?
NM_198253.2:c.1379del , LRG_343t1:c.1379del	NP_937983.2:p.Gln460ArgfsTer?
NR_149162.1:n.1437del
NR_149163.1:n.1437del
NM_001193376.2:c.1379del	NP_001180305.1:p.Gln460ArgfsTer?
NM_198253.3:c.1379del MANE Select	NP_937983.2:p.Gln460ArgfsTer?
NR_149162.2:n.1458del
NR_149163.2:n.1458del
NM_001193376.3:c.1379del	NP_001180305.1:p.Gln460ArgfsTer?
NR_149162.3:n.1458del
NR_149163.3:n.1458del