Canonical Allele Identifier: CA916081464

Gene: TERT

Linked Data

• ClinVar Variation Id: 850129
• ClinVar RCV Id: RCV002553772
• dbSNP Id: rs1751155195

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1293717_1293732del , CM000667.2:g.1293717_1293732del	GRCh38
NC_000005.9:g.1293832_1293847del , CM000667.1:g.1293832_1293847del	GRCh37
NC_000005.8:g.1346832_1346847del	NCBI36
NG_009265.1:g.6318_6333del , LRG_343:g.6318_6333del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.1156_1171del MANE Select	ENSP00000309572.5:p.Tyr386ProfsTer?
ENST00000656021.1:c.1156_1171del	ENSP00000499759.1:p.Tyr386ProfsTer?
ENST00000310581.9:c.1156_1171del	ENSP00000309572.5:p.Tyr386ProfsTer?
ENST00000334602.10:c.1156_1171del	ENSP00000334346.6:p.Tyr386ProfsTer?
ENST00000460137.6:c.1156_1171del	ENSP00000425003.1:p.Tyr386ProfsTer?
ENST00000508104.2:c.1156_1171del	ENSP00000426042.2:p.Tyr386ProfsTer?
NM_001193376.1:c.1156_1171del	NP_001180305.1:p.Tyr386ProfsTer?
NM_198253.2:c.1156_1171del , LRG_343t1:c.1156_1171del	NP_937983.2:p.Tyr386ProfsTer?
NR_149162.1:n.1214_1229del
NR_149163.1:n.1214_1229del
NM_001193376.2:c.1156_1171del	NP_001180305.1:p.Tyr386ProfsTer?
NM_198253.3:c.1156_1171del MANE Select	NP_937983.2:p.Tyr386ProfsTer?
NR_149162.2:n.1235_1250del
NR_149163.2:n.1235_1250del
NM_001193376.3:c.1156_1171del	NP_001180305.1:p.Tyr386ProfsTer?
NR_149162.3:n.1235_1250del
NR_149163.3:n.1235_1250del