Canonical Allele Identifier: CA2673079244

Gene: TERT

Linked Data

• gnomAD v4: 5-1278766-G-GGA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1278767_1278768dup , CM000667.2:g.1278767_1278768dup	GRCh38
NC_000005.9:g.1278882_1278883dup , CM000667.1:g.1278882_1278883dup	GRCh37
NC_000005.8:g.1331882_1331883dup	NCBI36
NG_009265.1:g.21280_21281dup , LRG_343:g.21280_21281dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2159_2160dup MANE Select	ENSP00000309572.5:p.Pro721SerfsTer?
ENST00000656021.1:c.*1705_*1706dup	ENSP00000499759.1:n.*1705_*1706dup
ENST00000310581.9:c.2159_2160dup	ENSP00000309572.5:p.Pro721SerfsTer?
ENST00000334602.10:c.2159_2160dup	ENSP00000334346.6:p.Pro721SerfsTer?
ENST00000460137.6:c.2131-8_2131-7dup	ENSP00000425003.1:n.2131-8_2131-7dup
ENST00000484238.6:n.972_973dup
ENST00000508104.2:c.2159_2160dup	ENSP00000426042.2:p.Pro721SerfsTer?
NM_001193376.1:c.2159_2160dup	NP_001180305.1:p.Pro721SerfsTer?
NM_198253.2:c.2159_2160dup , LRG_343t1:c.2159_2160dup	NP_937983.2:p.Pro721SerfsTer?
XM_011514104.1:c.629_630dup	XP_011512406.1:p.Pro211SerfsTer?
XM_011514105.1:c.515_516dup	XP_011512407.1:p.Pro173SerfsTer?
XM_011514106.1:c.515_516dup	XP_011512408.1:p.Pro173SerfsTer?
NR_149162.1:n.2217_2218dup
NR_149163.1:n.2189-8_2189-7dup
NM_001193376.2:c.2159_2160dup	NP_001180305.1:p.Pro721SerfsTer?
NM_198253.3:c.2159_2160dup MANE Select	NP_937983.2:p.Pro721SerfsTer?
NR_149162.2:n.2238_2239dup
NR_149163.2:n.2210-8_2210-7dup
NM_001193376.3:c.2159_2160dup	NP_001180305.1:p.Pro721SerfsTer?
NR_149162.3:n.2238_2239dup
NR_149163.3:n.2210-8_2210-7dup