Canonical Allele Identifier: CA1522545513

Gene: TERT

Linked Data

• dbSNP Id: rs1748604108
• gnomAD v4: 5-1266402-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1266402_1266403insA , CM000667.2:g.1266402_1266403insA	GRCh38
NC_000005.9:g.1266517_1266518insA , CM000667.1:g.1266517_1266518insA	GRCh37
NC_000005.8:g.1319517_1319518insA	NCBI36
NG_009265.1:g.33645_33646insT , LRG_343:g.33645_33646insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2654+61_2654+62insT MANE Select	ENSP00000309572.5:n.2654+61_2654+62insT
ENST00000656021.1:c.*2200+61_*2200+62insT	ENSP00000499759.1:n.*2200+61_*2200+62insT
ENST00000310581.9:c.2654+61_2654+62insT	ENSP00000309572.5:n.2654+61_2654+62insT
ENST00000334602.10:c.2654+61_2654+62insT	ENSP00000334346.6:n.2654+61_2654+62insT
ENST00000460137.6:c.2436+61_2436+62insT	ENSP00000425003.1:n.2436+61_2436+62insT
ENST00000484238.6:n.1285+61_1285+62insT
ENST00000503656.1:n.61+61_61+62insT
NM_001193376.1:c.2654+61_2654+62insT	NP_001180305.1:n.2654+61_2654+62insT
NM_198253.2:c.2654+61_2654+62insT , LRG_343t1:c.2654+61_2654+62insT	NP_937983.2:n.2654+61_2654+62insT
XM_011514104.1:c.1124+61_1124+62insT	XP_011512406.1:n.1124+61_1124+62insT
XM_011514105.1:c.1010+61_1010+62insT	XP_011512407.1:n.1010+61_1010+62insT
XM_011514106.1:c.1010+61_1010+62insT	XP_011512408.1:n.1010+61_1010+62insT
NR_149162.1:n.2530+61_2530+62insT
NR_149163.1:n.2494+61_2494+62insT
NM_001193376.2:c.2654+61_2654+62insT	NP_001180305.1:n.2654+61_2654+62insT
NM_198253.3:c.2654+61_2654+62insT MANE Select	NP_937983.2:n.2654+61_2654+62insT
NR_149162.2:n.2551+61_2551+62insT
NR_149163.2:n.2515+61_2515+62insT
NM_001193376.3:c.2654+61_2654+62insT	NP_001180305.1:n.2654+61_2654+62insT
NR_149162.3:n.2551+61_2551+62insT
NR_149163.3:n.2515+61_2515+62insT