Canonical Allele Identifier: CA1072512916

Gene: TERT

Linked Data

• dbSNP Id: rs1751149699
• gnomAD v3: 5-1293675-G-GGGCACTGCGCGTGGTT
• gnomAD v4: 5-1293675-G-GGGCACTGCGCGTGGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1293676_1293691dup , CM000667.2:g.1293676_1293691dup	GRCh38
NC_000005.9:g.1293791_1293806dup , CM000667.1:g.1293791_1293806dup	GRCh37
NC_000005.8:g.1346791_1346806dup	NCBI36
NG_009265.1:g.6357_6372dup , LRG_343:g.6357_6372dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.1195_1210dup MANE Select	ENSP00000309572.5:p.Pro404GlnfsTer?
ENST00000656021.1:c.1195_1210dup	ENSP00000499759.1:p.Pro404GlnfsTer?
ENST00000310581.9:c.1195_1210dup	ENSP00000309572.5:p.Pro404GlnfsTer?
ENST00000334602.10:c.1195_1210dup	ENSP00000334346.6:p.Pro404GlnfsTer?
ENST00000460137.6:c.1195_1210dup	ENSP00000425003.1:p.Pro404GlnfsTer?
ENST00000508104.2:c.1195_1210dup	ENSP00000426042.2:p.Pro404GlnfsTer?
NM_001193376.1:c.1195_1210dup	NP_001180305.1:p.Pro404GlnfsTer?
NM_198253.2:c.1195_1210dup , LRG_343t1:c.1195_1210dup	NP_937983.2:p.Pro404GlnfsTer?
NR_149162.1:n.1253_1268dup
NR_149163.1:n.1253_1268dup
NM_001193376.2:c.1195_1210dup	NP_001180305.1:p.Pro404GlnfsTer?
NM_198253.3:c.1195_1210dup MANE Select	NP_937983.2:p.Pro404GlnfsTer?
NR_149162.2:n.1274_1289dup
NR_149163.2:n.1274_1289dup
NM_001193376.3:c.1195_1210dup	NP_001180305.1:p.Pro404GlnfsTer?
NR_149162.3:n.1274_1289dup
NR_149163.3:n.1274_1289dup