Canonical Allele Identifier: CA2673080588

Gene: TERT

Linked Data

• gnomAD v4: 5-1293243-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1293248dup , CM000667.2:g.1293248dup	GRCh38
NC_000005.9:g.1293363dup , CM000667.1:g.1293363dup	GRCh37
NC_000005.8:g.1346363dup	NCBI36
NG_009265.1:g.6804dup , LRG_343:g.6804dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.1573+69dup MANE Select	ENSP00000309572.5:n.1573+69dup
ENST00000656021.1:c.1642dup	ENSP00000499759.1:p.Ala548GlyfsTer?
ENST00000310581.9:c.1573+69dup	ENSP00000309572.5:n.1573+69dup
ENST00000334602.10:c.1573+69dup	ENSP00000334346.6:n.1573+69dup
ENST00000460137.6:c.1573+69dup	ENSP00000425003.1:n.1573+69dup
ENST00000508104.2:c.1573+69dup	ENSP00000426042.2:n.1573+69dup
NM_001193376.1:c.1573+69dup	NP_001180305.1:n.1573+69dup
NM_198253.2:c.1573+69dup , LRG_343t1:c.1573+69dup	NP_937983.2:n.1573+69dup
NR_149162.1:n.1631+69dup
NR_149163.1:n.1631+69dup
NM_001193376.2:c.1573+69dup	NP_001180305.1:n.1573+69dup
NM_198253.3:c.1573+69dup MANE Select	NP_937983.2:n.1573+69dup
NR_149162.2:n.1652+69dup
NR_149163.2:n.1652+69dup
NM_001193376.3:c.1573+69dup	NP_001180305.1:n.1573+69dup
NR_149162.3:n.1652+69dup
NR_149163.3:n.1652+69dup