Canonical Allele Identifier: CA1522539323

Gene: TERT

Linked Data

• dbSNP Id: rs1748110359
• gnomAD v3: 5-1260029-AGGGCTGCAGCTTCAGAGCCTCAGCCCACCAAGGCCT-A
• gnomAD v4: 5-1260029-AGGGCTGCAGCTTCAGAGCCTCAGCCCACCAAGGCCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1260033_1260068del , CM000667.2:g.1260033_1260068del	GRCh38
NC_000005.9:g.1260148_1260183del , CM000667.1:g.1260148_1260183del	GRCh37
NC_000005.8:g.1313148_1313183del	NCBI36
NG_009265.1:g.39983_40018del , LRG_343:g.39983_40018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2970+409_2970+444del MANE Select	ENSP00000309572.5:n.2970+409_2970+444del
ENST00000656021.1:c.*2516+409_*2516+444del	ENSP00000499759.1:n.*2516+409_*2516+444del
ENST00000667927.1:n.258+409_258+444del
ENST00000310581.9:c.2970+409_2970+444del	ENSP00000309572.5:n.2970+409_2970+444del
ENST00000334602.10:c.2781+409_2781+444del	ENSP00000334346.6:n.2781+409_2781+444del
ENST00000460137.6:c.2563+409_2563+444del	ENSP00000425003.1:n.2563+409_2563+444del
ENST00000484238.6:n.1412+409_1412+444del
NM_001193376.1:c.2781+409_2781+444del	NP_001180305.1:n.2781+409_2781+444del
NM_198253.2:c.2970+409_2970+444del , LRG_343t1:c.2970+409_2970+444del	NP_937983.2:n.2970+409_2970+444del
XM_011514104.1:c.1440+409_1440+444del	XP_011512406.1:n.1440+409_1440+444del
XM_011514105.1:c.1326+409_1326+444del	XP_011512407.1:n.1326+409_1326+444del
XM_011514106.1:c.1326+409_1326+444del	XP_011512408.1:n.1326+409_1326+444del
NR_149162.1:n.2657+409_2657+444del
NR_149163.1:n.2621+409_2621+444del
NM_001193376.2:c.2781+409_2781+444del	NP_001180305.1:n.2781+409_2781+444del
NM_198253.3:c.2970+409_2970+444del MANE Select	NP_937983.2:n.2970+409_2970+444del
NR_149162.2:n.2678+409_2678+444del
NR_149163.2:n.2642+409_2642+444del
NM_001193376.3:c.2781+409_2781+444del	NP_001180305.1:n.2781+409_2781+444del
NR_149162.3:n.2678+409_2678+444del
NR_149163.3:n.2642+409_2642+444del