Canonical Allele Identifier: CA2590900244

Gene: TERT

Linked Data

• gnomAD v3: 5-1266217-CGTGT-C
• gnomAD v4: 5-1266217-CGTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1266220_1266223del , CM000667.2:g.1266220_1266223del	GRCh38
NC_000005.9:g.1266335_1266338del , CM000667.1:g.1266335_1266338del	GRCh37
NC_000005.8:g.1319335_1319338del	NCBI36
NG_009265.1:g.33827_33830del , LRG_343:g.33827_33830del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2654+243_2654+246del MANE Select	ENSP00000309572.5:n.2654+243_2654+246del
ENST00000656021.1:c.*2200+243_*2200+246del	ENSP00000499759.1:n.*2200+243_*2200+246del
ENST00000310581.9:c.2654+243_2654+246del	ENSP00000309572.5:n.2654+243_2654+246del
ENST00000334602.10:c.2654+243_2654+246del	ENSP00000334346.6:n.2654+243_2654+246del
ENST00000460137.6:c.2436+243_2436+246del	ENSP00000425003.1:n.2436+243_2436+246del
ENST00000484238.6:n.1285+243_1285+246del
ENST00000503656.1:n.61+243_61+246del
NM_001193376.1:c.2654+243_2654+246del	NP_001180305.1:n.2654+243_2654+246del
NM_198253.2:c.2654+243_2654+246del , LRG_343t1:c.2654+243_2654+246del	NP_937983.2:n.2654+243_2654+246del
XM_011514104.1:c.1124+243_1124+246del	XP_011512406.1:n.1124+243_1124+246del
XM_011514105.1:c.1010+243_1010+246del	XP_011512407.1:n.1010+243_1010+246del
XM_011514106.1:c.1010+243_1010+246del	XP_011512408.1:n.1010+243_1010+246del
NR_149162.1:n.2530+243_2530+246del
NR_149163.1:n.2494+243_2494+246del
NM_001193376.2:c.2654+243_2654+246del	NP_001180305.1:n.2654+243_2654+246del
NM_198253.3:c.2654+243_2654+246del MANE Select	NP_937983.2:n.2654+243_2654+246del
NR_149162.2:n.2551+243_2551+246del
NR_149163.2:n.2515+243_2515+246del
NM_001193376.3:c.2654+243_2654+246del	NP_001180305.1:n.2654+243_2654+246del
NR_149162.3:n.2551+243_2551+246del
NR_149163.3:n.2515+243_2515+246del