Canonical Allele Identifier: CA2673080614

Gene: TERT

Linked Data

• ClinVar Variation Id: 2925732
• ClinVar RCV Id: RCV003783826
• gnomAD v4: 5-1293297-GCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1293303_1293305del , CM000667.2:g.1293303_1293305del	GRCh38
NC_000005.9:g.1293418_1293420del , CM000667.1:g.1293418_1293420del	GRCh37
NC_000005.8:g.1346418_1346420del	NCBI36
NG_009265.1:g.6748_6750del , LRG_343:g.6748_6750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.1573+13_1573+15del MANE Select	ENSP00000309572.5:n.1573+13_1573+15del
ENST00000656021.1:c.1586_1588del	ENSP00000499759.1:p.Val529del
ENST00000310581.9:c.1573+13_1573+15del	ENSP00000309572.5:n.1573+13_1573+15del
ENST00000334602.10:c.1573+13_1573+15del	ENSP00000334346.6:n.1573+13_1573+15del
ENST00000460137.6:c.1573+13_1573+15del	ENSP00000425003.1:n.1573+13_1573+15del
ENST00000508104.2:c.1573+13_1573+15del	ENSP00000426042.2:n.1573+13_1573+15del
NM_001193376.1:c.1573+13_1573+15del	NP_001180305.1:n.1573+13_1573+15del
NM_198253.2:c.1573+13_1573+15del , LRG_343t1:c.1573+13_1573+15del	NP_937983.2:n.1573+13_1573+15del
NR_149162.1:n.1631+13_1631+15del
NR_149163.1:n.1631+13_1631+15del
NM_001193376.2:c.1573+13_1573+15del	NP_001180305.1:n.1573+13_1573+15del
NM_198253.3:c.1573+13_1573+15del MANE Select	NP_937983.2:n.1573+13_1573+15del
NR_149162.2:n.1652+13_1652+15del
NR_149163.2:n.1652+13_1652+15del
NM_001193376.3:c.1573+13_1573+15del	NP_001180305.1:n.1573+13_1573+15del
NR_149162.3:n.1652+13_1652+15del
NR_149163.3:n.1652+13_1652+15del