Canonical Allele Identifier: CA1072495761

Gene: TERT

Linked Data

• dbSNP Id: rs1748121053
• gnomAD v3: 5-1260162-TACTC-T
• gnomAD v4: 5-1260162-TACTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1260165_1260168del , CM000667.2:g.1260165_1260168del	GRCh38
NC_000005.9:g.1260280_1260283del , CM000667.1:g.1260280_1260283del	GRCh37
NC_000005.8:g.1313280_1313283del	NCBI36
NG_009265.1:g.39882_39885del , LRG_343:g.39882_39885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2970+308_2970+311del MANE Select	ENSP00000309572.5:n.2970+308_2970+311del
ENST00000656021.1:c.*2516+308_*2516+311del	ENSP00000499759.1:n.*2516+308_*2516+311del
ENST00000667927.1:n.258+308_258+311del
ENST00000310581.9:c.2970+308_2970+311del	ENSP00000309572.5:n.2970+308_2970+311del
ENST00000334602.10:c.2781+308_2781+311del	ENSP00000334346.6:n.2781+308_2781+311del
ENST00000460137.6:c.2563+308_2563+311del	ENSP00000425003.1:n.2563+308_2563+311del
ENST00000484238.6:n.1412+308_1412+311del
NM_001193376.1:c.2781+308_2781+311del	NP_001180305.1:n.2781+308_2781+311del
NM_198253.2:c.2970+308_2970+311del , LRG_343t1:c.2970+308_2970+311del	NP_937983.2:n.2970+308_2970+311del
XM_011514104.1:c.1440+308_1440+311del	XP_011512406.1:n.1440+308_1440+311del
XM_011514105.1:c.1326+308_1326+311del	XP_011512407.1:n.1326+308_1326+311del
XM_011514106.1:c.1326+308_1326+311del	XP_011512408.1:n.1326+308_1326+311del
NR_149162.1:n.2657+308_2657+311del
NR_149163.1:n.2621+308_2621+311del
NM_001193376.2:c.2781+308_2781+311del	NP_001180305.1:n.2781+308_2781+311del
NM_198253.3:c.2970+308_2970+311del MANE Select	NP_937983.2:n.2970+308_2970+311del
NR_149162.2:n.2678+308_2678+311del
NR_149163.2:n.2642+308_2642+311del
NM_001193376.3:c.2781+308_2781+311del	NP_001180305.1:n.2781+308_2781+311del
NR_149162.3:n.2678+308_2678+311del
NR_149163.3:n.2642+308_2642+311del