Canonical Allele Identifier: CA2580071968

Gene: TERT

Linked Data

• ClinVar Variation Id: 2009240
• ClinVar RCV Id: RCV002838216

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1293316_1293317delinsTT , CM000667.2:g.1293316_1293317delinsTT	GRCh38
NC_000005.9:g.1293431_1293432delinsTT , CM000667.1:g.1293431_1293432delinsTT	GRCh37
NC_000005.8:g.1346431_1346432delinsTT	NCBI36
NG_009265.1:g.6731_6732delinsAA , LRG_343:g.6731_6732delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.1569_1570delinsAA MANE Select	ENSP00000309572.5:p.Ser523_Pro524delinsArgThr
ENST00000656021.1:c.1569_1570delinsAA	ENSP00000499759.1:p.Ser523_Pro524delinsArgThr
ENST00000310581.9:c.1569_1570delinsAA	ENSP00000309572.5:p.Ser523_Pro524delinsArgThr
ENST00000334602.10:c.1569_1570delinsAA	ENSP00000334346.6:p.Ser523_Pro524delinsArgThr
ENST00000460137.6:c.1569_1570delinsAA	ENSP00000425003.1:p.Ser523_Pro524delinsArgThr
ENST00000508104.2:c.1569_1570delinsAA	ENSP00000426042.2:p.Ser523_Pro524delinsArgThr
NM_001193376.1:c.1569_1570delinsAA	NP_001180305.1:p.Ser523_Pro524delinsArgThr
NM_198253.2:c.1569_1570delinsAA , LRG_343t1:c.1569_1570delinsAA	NP_937983.2:p.Ser523_Pro524delinsArgThr
NR_149162.1:n.1627_1628delinsAA
NR_149163.1:n.1627_1628delinsAA
NM_001193376.2:c.1569_1570delinsAA	NP_001180305.1:p.Ser523_Pro524delinsArgThr
NM_198253.3:c.1569_1570delinsAA MANE Select	NP_937983.2:p.Ser523_Pro524delinsArgThr
NR_149162.2:n.1648_1649delinsAA
NR_149163.2:n.1648_1649delinsAA
NM_001193376.3:c.1569_1570delinsAA	NP_001180305.1:p.Ser523_Pro524delinsArgThr
NR_149162.3:n.1648_1649delinsAA
NR_149163.3:n.1648_1649delinsAA