Canonical Allele Identifier: CA2673056493

Gene: TERT

Linked Data

• gnomAD v4: 5-1260375-CACCATCAGCCTTGCAGGCACGCGCGCACACACACACACACATACTTGCGCACACACCTCCTGAACTCTGAACTCTGTGCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1260387_1260467del , CM000667.2:g.1260387_1260467del	GRCh38
NC_000005.9:g.1260502_1260582del , CM000667.1:g.1260502_1260582del	GRCh37
NC_000005.8:g.1313502_1313582del	NCBI36
NG_009265.1:g.39592_39672del , LRG_343:g.39592_39672del

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2970+18_2970+98del MANE Select	ENSP00000309572.5:n.2970+18_2970+98del
ENST00000656021.1:c.*2516+18_*2516+98del	ENSP00000499759.1:n.*2516+18_*2516+98del
ENST00000667927.1:n.258+18_258+98del
ENST00000310581.9:c.2970+18_2970+98del	ENSP00000309572.5:n.2970+18_2970+98del
ENST00000334602.10:c.2781+18_2781+98del	ENSP00000334346.6:n.2781+18_2781+98del
ENST00000460137.6:c.2563+18_2563+98del	ENSP00000425003.1:n.2563+18_2563+98del
ENST00000484238.6:n.1412+18_1412+98del
NM_001193376.1:c.2781+18_2781+98del	NP_001180305.1:n.2781+18_2781+98del
NM_198253.2:c.2970+18_2970+98del , LRG_343t1:c.2970+18_2970+98del	NP_937983.2:n.2970+18_2970+98del
XM_011514104.1:c.1440+18_1440+98del	XP_011512406.1:n.1440+18_1440+98del
XM_011514105.1:c.1326+18_1326+98del	XP_011512407.1:n.1326+18_1326+98del
XM_011514106.1:c.1326+18_1326+98del	XP_011512408.1:n.1326+18_1326+98del
NR_149162.1:n.2657+18_2657+98del
NR_149163.1:n.2621+18_2621+98del
NM_001193376.2:c.2781+18_2781+98del	NP_001180305.1:n.2781+18_2781+98del
NM_198253.3:c.2970+18_2970+98del MANE Select	NP_937983.2:n.2970+18_2970+98del
NR_149162.2:n.2678+18_2678+98del
NR_149163.2:n.2642+18_2642+98del
NM_001193376.3:c.2781+18_2781+98del	NP_001180305.1:n.2781+18_2781+98del
NR_149162.3:n.2678+18_2678+98del
NR_149163.3:n.2642+18_2642+98del