Canonical Allele Identifier: CA803362269

Gene: TERT

Linked Data

• dbSNP Id: rs140610549
• gnomAD v3: 5-1260400-GCACA-G
• gnomAD v4: 5-1260400-GCACA-G
• MyVariant Identifiers: chr5:g.1260516_1260519del (hg19) ; chr5:g.1260401_1260404del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1260413_1260416del , CM000667.2:g.1260413_1260416del	GRCh38
NC_000005.9:g.1260528_1260531del , CM000667.1:g.1260528_1260531del	GRCh37
NC_000005.8:g.1313528_1313531del	NCBI36
NG_009265.1:g.39644_39647del , LRG_343:g.39644_39647del

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2970+70_2970+73del MANE Select	ENSP00000309572.5:n.2970+70_2970+73del
ENST00000656021.1:c.*2516+70_*2516+73del	ENSP00000499759.1:n.*2516+70_*2516+73del
ENST00000667927.1:n.258+70_258+73del
ENST00000310581.9:c.2970+70_2970+73del	ENSP00000309572.5:n.2970+70_2970+73del
ENST00000334602.10:c.2781+70_2781+73del	ENSP00000334346.6:n.2781+70_2781+73del
ENST00000460137.6:c.2563+70_2563+73del	ENSP00000425003.1:n.2563+70_2563+73del
ENST00000484238.6:n.1412+70_1412+73del
NM_001193376.1:c.2781+70_2781+73del	NP_001180305.1:n.2781+70_2781+73del
NM_198253.2:c.2970+70_2970+73del , LRG_343t1:c.2970+70_2970+73del	NP_937983.2:n.2970+70_2970+73del
XM_011514104.1:c.1440+70_1440+73del	XP_011512406.1:n.1440+70_1440+73del
XM_011514105.1:c.1326+70_1326+73del	XP_011512407.1:n.1326+70_1326+73del
XM_011514106.1:c.1326+70_1326+73del	XP_011512408.1:n.1326+70_1326+73del
NR_149162.1:n.2657+70_2657+73del
NR_149163.1:n.2621+70_2621+73del
NM_001193376.2:c.2781+70_2781+73del	NP_001180305.1:n.2781+70_2781+73del
NM_198253.3:c.2970+70_2970+73del MANE Select	NP_937983.2:n.2970+70_2970+73del
NR_149162.2:n.2678+70_2678+73del
NR_149163.2:n.2642+70_2642+73del
NM_001193376.3:c.2781+70_2781+73del	NP_001180305.1:n.2781+70_2781+73del
NR_149162.3:n.2678+70_2678+73del
NR_149163.3:n.2642+70_2642+73del