Canonical Allele Identifier: CA917398116

Gene: TERT

Linked Data

• dbSNP Id: rs377639087
• gnomAD v4: 5-1293560-G-GTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1293569_1293571dup , CM000667.2:g.1293569_1293571dup	GRCh38
NC_000005.9:g.1293684_1293686dup , CM000667.1:g.1293684_1293686dup	GRCh37
NC_000005.8:g.1346684_1346686dup	NCBI36
NG_009265.1:g.6485_6487dup , LRG_343:g.6485_6487dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.1323_1325dup MANE Select	ENSP00000309572.5:p.Glu441_Asp442insGlu
ENST00000656021.1:c.1323_1325dup	ENSP00000499759.1:p.Glu441_Asp442insGlu
ENST00000310581.9:c.1323_1325dup	ENSP00000309572.5:p.Glu441_Asp442insGlu
ENST00000334602.10:c.1323_1325dup	ENSP00000334346.6:p.Glu441_Asp442insGlu
ENST00000460137.6:c.1323_1325dup	ENSP00000425003.1:p.Glu441_Asp442insGlu
ENST00000508104.2:c.1323_1325dup	ENSP00000426042.2:p.Glu441_Asp442insGlu
NM_001193376.1:c.1323_1325dup	NP_001180305.1:p.Glu441_Asp442insGlu
NM_198253.2:c.1323_1325dup , LRG_343t1:c.1323_1325dup	NP_937983.2:p.Glu441_Asp442insGlu
NR_149162.1:n.1381_1383dup
NR_149163.1:n.1381_1383dup
NM_001193376.2:c.1323_1325dup	NP_001180305.1:p.Glu441_Asp442insGlu
NM_198253.3:c.1323_1325dup MANE Select	NP_937983.2:p.Glu441_Asp442insGlu
NR_149162.2:n.1402_1404dup
NR_149163.2:n.1402_1404dup
NM_001193376.3:c.1323_1325dup	NP_001180305.1:p.Glu441_Asp442insGlu
NR_149162.3:n.1402_1404dup
NR_149163.3:n.1402_1404dup