Canonical Allele Identifier: CA803536160
Gene: TERT HGNC NCBI

Linked Data

dbSNP Id: rs1191927616
gnomAD v3: 5-1278851-AC-A
gnomAD v4: 5-1278851-AC-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1278853del , CM000667.2:g.1278853del GRCh38
NC_000005.9:g.1278968del , CM000667.1:g.1278968del GRCh37
NC_000005.8:g.1331968del NCBI36
NG_009265.1:g.21196del , LRG_343:g.21196del

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.2131-56del MANE Select ENSP00000309572.5:n.2131-56del
ENST00000656021.1:c.*1677-56del ENSP00000499759.1:n.*1677-56del
ENST00000310581.9:c.2131-56del ENSP00000309572.5:n.2131-56del
ENST00000334602.10:c.2131-56del ENSP00000334346.6:n.2131-56del
ENST00000460137.6:c.2131-92del ENSP00000425003.1:n.2131-92del
ENST00000484238.6:n.944-56del
ENST00000508104.2:c.2131-56del ENSP00000426042.2:n.2131-56del
NM_001193376.1:c.2131-56del NP_001180305.1:n.2131-56del
NM_198253.2:c.2131-56del , LRG_343t1:c.2131-56del NP_937983.2:n.2131-56del
XM_011514104.1:c.601-56del XP_011512406.1:n.601-56del
XM_011514105.1:c.487-56del XP_011512407.1:n.487-56del
XM_011514106.1:c.487-56del XP_011512408.1:n.487-56del
NR_149162.1:n.2189-56del
NR_149163.1:n.2189-92del
NM_001193376.2:c.2131-56del NP_001180305.1:n.2131-56del
NM_198253.3:c.2131-56del MANE Select NP_937983.2:n.2131-56del
NR_149162.2:n.2210-56del
NR_149163.2:n.2210-92del
NM_001193376.3:c.2131-56del NP_001180305.1:n.2131-56del
NR_149162.3:n.2210-56del
NR_149163.3:n.2210-92del