Canonical Allele Identifier: CA3184444

Gene: TERT

Linked Data

• ClinVar Variation Id: 2008972
• ClinVar RCV Id: RCV002829042
• dbSNP Id: rs763191618
• ExAC: 5:1266598 GGGTGA / G
• gnomAD v2: 5-1266598-GGGTGA-G
• gnomAD v4: 5-1266483-GGGTGA-G
• MyVariant Identifiers: chr5:g.1266599_1266603del (hg19) ; chr5:g.1266484_1266488del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1266493_1266497del , CM000667.2:g.1266493_1266497del	GRCh38
NC_000005.9:g.1266608_1266612del , CM000667.1:g.1266608_1266612del	GRCh37
NC_000005.8:g.1319608_1319612del	NCBI36
NG_009265.1:g.33560_33564del , LRG_343:g.33560_33564del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2630_2634del MANE Select	ENSP00000309572.5:p.Leu877ProfsTer15
ENST00000656021.1:c.*2176_*2180del	ENSP00000499759.1:n.*2176_*2180del
ENST00000310581.9:c.2630_2634del	ENSP00000309572.5:p.Leu877ProfsTer15
ENST00000334602.10:c.2630_2634del	ENSP00000334346.6:p.Leu877ProfsTer?
ENST00000460137.6:c.2412_2416del	ENSP00000425003.1:n.2412_2416del
ENST00000484238.6:n.1261_1265del
ENST00000503656.1:n.37_41del
ENST00000508104.2:c.2448_2452del	ENSP00000426042.2:n.2448_2452del
NM_001193376.1:c.2630_2634del	NP_001180305.1:p.Leu877ProfsTer?
NM_198253.2:c.2630_2634del , LRG_343t1:c.2630_2634del	NP_937983.2:p.Leu877ProfsTer15
XM_011514104.1:c.1100_1104del	XP_011512406.1:p.Leu367ProfsTer15
XM_011514105.1:c.986_990del	XP_011512407.1:p.Leu329ProfsTer15
XM_011514106.1:c.986_990del	XP_011512408.1:p.Leu329ProfsTer15
NR_149162.1:n.2506_2510del
NR_149163.1:n.2470_2474del
NM_001193376.2:c.2630_2634del	NP_001180305.1:p.Leu877ProfsTer?
NM_198253.3:c.2630_2634del MANE Select	NP_937983.2:p.Leu877ProfsTer15
NR_149162.2:n.2527_2531del
NR_149163.2:n.2491_2495del
NM_001193376.3:c.2630_2634del	NP_001180305.1:p.Leu877ProfsTer?
NR_149162.3:n.2527_2531del
NR_149163.3:n.2491_2495del