Canonical Allele Identifier: CA2578259808

Gene: TERT

Linked Data

• ClinVar Variation Id: 1994215
• ClinVar RCV Id: RCV002806696

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1294934_1294935del , CM000667.2:g.1294934_1294935del	GRCh38
NC_000005.9:g.1295049_1295050del , CM000667.1:g.1295049_1295050del	GRCh37
NC_000005.8:g.1348049_1348050del	NCBI36
NG_009265.1:g.5115_5116del , LRG_343:g.5115_5116del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.57_58del MANE Select	ENSP00000309572.5:p.Glu20GlyfsTer?
ENST00000656021.1:c.57_58del	ENSP00000499759.1:p.Glu20GlyfsTer?
ENST00000310581.9:c.57_58del	ENSP00000309572.5:p.Glu20GlyfsTer?
ENST00000334602.10:c.57_58del	ENSP00000334346.6:p.Glu20GlyfsTer?
ENST00000460137.6:c.57_58del	ENSP00000425003.1:p.Glu20GlyfsTer?
ENST00000508104.2:c.57_58del	ENSP00000426042.2:p.Glu20GlyfsTer?
ENST00000522877.1:n.137_138del
NM_001193376.1:c.57_58del	NP_001180305.1:p.Glu20GlyfsTer?
NM_198253.2:c.57_58del , LRG_343t1:c.57_58del	NP_937983.2:p.Glu20GlyfsTer?
NR_149162.1:n.115_116del
NR_149163.1:n.115_116del
NM_001193376.2:c.57_58del	NP_001180305.1:p.Glu20GlyfsTer?
NM_198253.3:c.57_58del MANE Select	NP_937983.2:p.Glu20GlyfsTer?
NR_149162.2:n.136_137del
NR_149163.2:n.136_137del
NM_001193376.3:c.57_58del	NP_001180305.1:p.Glu20GlyfsTer?
NR_149162.3:n.136_137del
NR_149163.3:n.136_137del