Canonical Allele Identifier: CA2673079243

Gene: TERT

Linked Data

• gnomAD v4: 5-1278762-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1278767del , CM000667.2:g.1278767del	GRCh38
NC_000005.9:g.1278882del , CM000667.1:g.1278882del	GRCh37
NC_000005.8:g.1331882del	NCBI36
NG_009265.1:g.21285del , LRG_343:g.21285del

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2164del MANE Select	ENSP00000309572.5:p.Gln722ArgfsTer?
ENST00000656021.1:c.*1710del	ENSP00000499759.1:n.*1710del
ENST00000310581.9:c.2164del	ENSP00000309572.5:p.Gln722ArgfsTer?
ENST00000334602.10:c.2164del	ENSP00000334346.6:p.Gln722ArgfsTer?
ENST00000460137.6:c.2131-3del	ENSP00000425003.1:n.2131-3del
ENST00000484238.6:n.977del
ENST00000508104.2:c.2164del	ENSP00000426042.2:p.Gln722ArgfsTer?
NM_001193376.1:c.2164del	NP_001180305.1:p.Gln722ArgfsTer?
NM_198253.2:c.2164del , LRG_343t1:c.2164del	NP_937983.2:p.Gln722ArgfsTer?
XM_011514104.1:c.634del	XP_011512406.1:p.Gln212ArgfsTer?
XM_011514105.1:c.520del	XP_011512407.1:p.Gln174ArgfsTer?
XM_011514106.1:c.520del	XP_011512408.1:p.Gln174ArgfsTer?
NR_149162.1:n.2222del
NR_149163.1:n.2189-3del
NM_001193376.2:c.2164del	NP_001180305.1:p.Gln722ArgfsTer?
NM_198253.3:c.2164del MANE Select	NP_937983.2:p.Gln722ArgfsTer?
NR_149162.2:n.2243del
NR_149163.2:n.2210-3del
NM_001193376.3:c.2164del	NP_001180305.1:p.Gln722ArgfsTer?
NR_149162.3:n.2243del
NR_149163.3:n.2210-3del