Canonical Allele Identifier: CA2673080955

Gene: TERT

Linked Data

• gnomAD v4: 5-1294753-G-GCCCTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1294753_1294754insCCCTCA , CM000667.2:g.1294753_1294754insCCCTCA	GRCh38
NC_000005.9:g.1294868_1294869insCCCTCA , CM000667.1:g.1294868_1294869insCCCTCA	GRCh37
NC_000005.8:g.1347868_1347869insCCCTCA	NCBI36
NG_009265.1:g.5294_5295insTGAGGG , LRG_343:g.5294_5295insTGAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.219+17_219+18insTGAGGG MANE Select	ENSP00000309572.5:n.219+17_219+18insTGAGGG
ENST00000656021.1:c.219+17_219+18insTGAGGG	ENSP00000499759.1:n.219+17_219+18insTGAGGG
ENST00000310581.9:c.219+17_219+18insTGAGGG	ENSP00000309572.5:n.219+17_219+18insTGAGGG
ENST00000334602.10:c.219+17_219+18insTGAGGG	ENSP00000334346.6:n.219+17_219+18insTGAGGG
ENST00000460137.6:c.219+17_219+18insTGAGGG	ENSP00000425003.1:n.219+17_219+18insTGAGGG
ENST00000508104.2:c.219+17_219+18insTGAGGG	ENSP00000426042.2:n.219+17_219+18insTGAGGG
ENST00000522877.1:n.299+17_299+18insTGAGGG
NM_001193376.1:c.219+17_219+18insTGAGGG	NP_001180305.1:n.219+17_219+18insTGAGGG
NM_198253.2:c.219+17_219+18insTGAGGG , LRG_343t1:c.219+17_219+18insTGAGGG	NP_937983.2:n.219+17_219+18insTGAGGG
NR_149162.1:n.277+17_277+18insTGAGGG
NR_149163.1:n.277+17_277+18insTGAGGG
NM_001193376.2:c.219+17_219+18insTGAGGG	NP_001180305.1:n.219+17_219+18insTGAGGG
NM_198253.3:c.219+17_219+18insTGAGGG MANE Select	NP_937983.2:n.219+17_219+18insTGAGGG
NR_149162.2:n.298+17_298+18insTGAGGG
NR_149163.2:n.298+17_298+18insTGAGGG
NM_001193376.3:c.219+17_219+18insTGAGGG	NP_001180305.1:n.219+17_219+18insTGAGGG
NR_149162.3:n.298+17_298+18insTGAGGG
NR_149163.3:n.298+17_298+18insTGAGGG