Canonical Allele Identifier: CA2673079258
Gene: TERT HGNC NCBI

Linked Data

dbSNP Id: rs2126640642
gnomAD v4: 5-1278847-C-CA

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1278848dup , CM000667.2:g.1278848dup GRCh38
NC_000005.9:g.1278963dup , CM000667.1:g.1278963dup GRCh37
NC_000005.8:g.1331963dup NCBI36
NG_009265.1:g.21200dup , LRG_343:g.21200dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.2131-52dup MANE Select ENSP00000309572.5:n.2131-52dup
ENST00000656021.1:c.*1677-52dup ENSP00000499759.1:n.*1677-52dup
ENST00000310581.9:c.2131-52dup ENSP00000309572.5:n.2131-52dup
ENST00000334602.10:c.2131-52dup ENSP00000334346.6:n.2131-52dup
ENST00000460137.6:c.2131-88dup ENSP00000425003.1:n.2131-88dup
ENST00000484238.6:n.944-52dup
ENST00000508104.2:c.2131-52dup ENSP00000426042.2:n.2131-52dup
NM_001193376.1:c.2131-52dup NP_001180305.1:n.2131-52dup
NM_198253.2:c.2131-52dup , LRG_343t1:c.2131-52dup NP_937983.2:n.2131-52dup
XM_011514104.1:c.601-52dup XP_011512406.1:n.601-52dup
XM_011514105.1:c.487-52dup XP_011512407.1:n.487-52dup
XM_011514106.1:c.487-52dup XP_011512408.1:n.487-52dup
NR_149162.1:n.2189-52dup
NR_149163.1:n.2189-88dup
NM_001193376.2:c.2131-52dup NP_001180305.1:n.2131-52dup
NM_198253.3:c.2131-52dup MANE Select NP_937983.2:n.2131-52dup
NR_149162.2:n.2210-52dup
NR_149163.2:n.2210-88dup
NM_001193376.3:c.2131-52dup NP_001180305.1:n.2131-52dup
NR_149162.3:n.2210-52dup
NR_149163.3:n.2210-88dup