Canonical Allele Identifier: CA2573138411

Gene: TERT

Linked Data

• ClinVar Variation Id: 1379443
• ClinVar RCV Id: RCV002552290
• dbSNP Id: rs2126685887

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1293766del , CM000667.2:g.1293766del	GRCh38
NC_000005.9:g.1293881del , CM000667.1:g.1293881del	GRCh37
NC_000005.8:g.1346881del	NCBI36
NG_009265.1:g.6284del , LRG_343:g.6284del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.1122del MANE Select	ENSP00000309572.5:p.Thr375LeufsTer?
ENST00000656021.1:c.1122del	ENSP00000499759.1:p.Thr375LeufsTer?
ENST00000310581.9:c.1122del	ENSP00000309572.5:p.Thr375LeufsTer?
ENST00000334602.10:c.1122del	ENSP00000334346.6:p.Thr375LeufsTer?
ENST00000460137.6:c.1122del	ENSP00000425003.1:p.Thr375LeufsTer?
ENST00000508104.2:c.1122del	ENSP00000426042.2:p.Thr375LeufsTer?
NM_001193376.1:c.1122del	NP_001180305.1:p.Thr375LeufsTer?
NM_198253.2:c.1122del , LRG_343t1:c.1122del	NP_937983.2:p.Thr375LeufsTer?
NR_149162.1:n.1180del
NR_149163.1:n.1180del
NM_001193376.2:c.1122del	NP_001180305.1:p.Thr375LeufsTer?
NM_198253.3:c.1122del MANE Select	NP_937983.2:p.Thr375LeufsTer?
NR_149162.2:n.1201del
NR_149163.2:n.1201del
NM_001193376.3:c.1122del	NP_001180305.1:p.Thr375LeufsTer?
NR_149162.3:n.1201del
NR_149163.3:n.1201del