Canonical Allele Identifier: CA2573138417

Gene: TERT

Linked Data

• ClinVar Variation Id: 1558375
• ClinVar RCV Id: RCV002562273
• dbSNP Id: rs2126691250

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1294752_1294753insCTC , CM000667.2:g.1294752_1294753insCTC	GRCh38
NC_000005.9:g.1294867_1294868insCTC , CM000667.1:g.1294867_1294868insCTC	GRCh37
NC_000005.8:g.1347867_1347868insCTC	NCBI36
NG_009265.1:g.5296_5297insAGG , LRG_343:g.5296_5297insAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.219+19_219+20insAGG MANE Select	ENSP00000309572.5:n.219+19_219+20insAGG
ENST00000656021.1:c.219+19_219+20insAGG	ENSP00000499759.1:n.219+19_219+20insAGG
ENST00000310581.9:c.219+19_219+20insAGG	ENSP00000309572.5:n.219+19_219+20insAGG
ENST00000334602.10:c.219+19_219+20insAGG	ENSP00000334346.6:n.219+19_219+20insAGG
ENST00000460137.6:c.219+19_219+20insAGG	ENSP00000425003.1:n.219+19_219+20insAGG
ENST00000508104.2:c.219+19_219+20insAGG	ENSP00000426042.2:n.219+19_219+20insAGG
ENST00000522877.1:n.299+19_299+20insAGG
NM_001193376.1:c.219+19_219+20insAGG	NP_001180305.1:n.219+19_219+20insAGG
NM_198253.2:c.219+19_219+20insAGG , LRG_343t1:c.219+19_219+20insAGG	NP_937983.2:n.219+19_219+20insAGG
NR_149162.1:n.277+19_277+20insAGG
NR_149163.1:n.277+19_277+20insAGG
NM_001193376.2:c.219+19_219+20insAGG	NP_001180305.1:n.219+19_219+20insAGG
NM_198253.3:c.219+19_219+20insAGG MANE Select	NP_937983.2:n.219+19_219+20insAGG
NR_149162.2:n.298+19_298+20insAGG
NR_149163.2:n.298+19_298+20insAGG
NM_001193376.3:c.219+19_219+20insAGG	NP_001180305.1:n.219+19_219+20insAGG
NR_149162.3:n.298+19_298+20insAGG
NR_149163.3:n.298+19_298+20insAGG