Canonical Allele Identifier: CA1072505657

Gene: TERT

Linked Data

• dbSNP Id: rs1749524242
• gnomAD v3: 5-1275772-TCCACCTACCCCACACATGAAAACCAACTCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCC-T
• gnomAD v4: 5-1275772-TCCACCTACCCCACACATGAAAACCAACTCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1275799_1275874del , CM000667.2:g.1275799_1275874del	GRCh38
NC_000005.9:g.1275914_1275989del , CM000667.1:g.1275914_1275989del	GRCh37
NC_000005.8:g.1328914_1328989del	NCBI36
NG_009265.1:g.24200_24275del , LRG_343:g.24200_24275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2286+2793_2286+2868del MANE Select	ENSP00000309572.5:n.2286+2793_2286+2868del
ENST00000656021.1:c.*1832+2793_*1832+2868del	ENSP00000499759.1:n.*1832+2793_*1832+2868del
ENST00000310581.9:c.2286+2793_2286+2868del	ENSP00000309572.5:n.2286+2793_2286+2868del
ENST00000334602.10:c.2286+2793_2286+2868del	ENSP00000334346.6:n.2286+2793_2286+2868del
ENST00000460137.6:c.2250+2793_2250+2868del	ENSP00000425003.1:n.2250+2793_2250+2868del
ENST00000484238.6:n.1099+2793_1099+2868del
ENST00000508104.2:c.2286+2793_2286+2868del	ENSP00000426042.2:n.2286+2793_2286+2868del
NM_001193376.1:c.2286+2793_2286+2868del	NP_001180305.1:n.2286+2793_2286+2868del
NM_198253.2:c.2286+2793_2286+2868del , LRG_343t1:c.2286+2793_2286+2868del	NP_937983.2:n.2286+2793_2286+2868del
XM_011514104.1:c.756+2793_756+2868del	XP_011512406.1:n.756+2793_756+2868del
XM_011514105.1:c.642+2793_642+2868del	XP_011512407.1:n.642+2793_642+2868del
XM_011514106.1:c.642+2793_642+2868del	XP_011512408.1:n.642+2793_642+2868del
NR_149162.1:n.2344+2793_2344+2868del
NR_149163.1:n.2308+2793_2308+2868del
NM_001193376.2:c.2286+2793_2286+2868del	NP_001180305.1:n.2286+2793_2286+2868del
NM_198253.3:c.2286+2793_2286+2868del MANE Select	NP_937983.2:n.2286+2793_2286+2868del
NR_149162.2:n.2365+2793_2365+2868del
NR_149163.2:n.2329+2793_2329+2868del
NM_001193376.3:c.2286+2793_2286+2868del	NP_001180305.1:n.2286+2793_2286+2868del
NR_149162.3:n.2365+2793_2365+2868del
NR_149163.3:n.2329+2793_2329+2868del