Canonical Allele Identifier: CA2673080629

Gene: TERT

Linked Data

• gnomAD v4: 5-1293915-ACCGGGGGACAAGGCGTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1293918_1293935del , CM000667.2:g.1293918_1293935del	GRCh38
NC_000005.9:g.1294033_1294050del , CM000667.1:g.1294033_1294050del	GRCh37
NC_000005.8:g.1347033_1347050del	NCBI36
NG_009265.1:g.6115_6132del , LRG_343:g.6115_6132del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.953_970del MANE Select	ENSP00000309572.5:p.Asp318_Pro323del
ENST00000656021.1:c.953_970del	ENSP00000499759.1:p.Asp318_Pro323del
ENST00000310581.9:c.953_970del	ENSP00000309572.5:p.Asp318_Pro323del
ENST00000334602.10:c.953_970del	ENSP00000334346.6:p.Asp318_Pro323del
ENST00000460137.6:c.953_970del	ENSP00000425003.1:p.Asp318_Pro323del
ENST00000508104.2:c.953_970del	ENSP00000426042.2:p.Asp318_Pro323del
NM_001193376.1:c.953_970del	NP_001180305.1:p.Asp318_Pro323del
NM_198253.2:c.953_970del , LRG_343t1:c.953_970del	NP_937983.2:p.Asp318_Pro323del
NR_149162.1:n.1011_1028del
NR_149163.1:n.1011_1028del
NM_001193376.2:c.953_970del	NP_001180305.1:p.Asp318_Pro323del
NM_198253.3:c.953_970del MANE Select	NP_937983.2:p.Asp318_Pro323del
NR_149162.2:n.1032_1049del
NR_149163.2:n.1032_1049del
NM_001193376.3:c.953_970del	NP_001180305.1:p.Asp318_Pro323del
NR_149162.3:n.1032_1049del
NR_149163.3:n.1032_1049del