Canonical Allele Identifier: CA803453202

Gene: TERT

Linked Data

• dbSNP Id: rs1196688271
• gnomAD v3: 5-1272321-G-GT
• gnomAD v4: 5-1272321-G-GT
• MyVariant Identifiers: chr5:g.1272436_1272437insT (hg19) ; chr5:g.1272321_1272322insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1272321_1272322insT , CM000667.2:g.1272321_1272322insT	GRCh38
NC_000005.9:g.1272436_1272437insT , CM000667.1:g.1272436_1272437insT	GRCh37
NC_000005.8:g.1325436_1325437insT	NCBI36
NG_009265.1:g.27726_27727insA , LRG_343:g.27726_27727insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2287-42_2287-41insA MANE Select	ENSP00000309572.5:n.2287-42_2287-41insA
ENST00000656021.1:c.*1833-42_*1833-41insA	ENSP00000499759.1:n.*1833-42_*1833-41insA
ENST00000310581.9:c.2287-42_2287-41insA	ENSP00000309572.5:n.2287-42_2287-41insA
ENST00000334602.10:c.2287-42_2287-41insA	ENSP00000334346.6:n.2287-42_2287-41insA
ENST00000460137.6:c.2251-3689_2251-3688insA	ENSP00000425003.1:n.2251-3689_2251-3688insA
ENST00000484238.6:n.1100-3689_1100-3688insA
ENST00000508104.2:c.2287-3689_2287-3688insA	ENSP00000426042.2:n.2287-3689_2287-3688insA
NM_001193376.1:c.2287-42_2287-41insA	NP_001180305.1:n.2287-42_2287-41insA
NM_198253.2:c.2287-42_2287-41insA , LRG_343t1:c.2287-42_2287-41insA	NP_937983.2:n.2287-42_2287-41insA
XM_011514104.1:c.757-42_757-41insA	XP_011512406.1:n.757-42_757-41insA
XM_011514105.1:c.643-42_643-41insA	XP_011512407.1:n.643-42_643-41insA
XM_011514106.1:c.643-42_643-41insA	XP_011512408.1:n.643-42_643-41insA
NR_149162.1:n.2345-3689_2345-3688insA
NR_149163.1:n.2309-3689_2309-3688insA
NM_001193376.2:c.2287-42_2287-41insA	NP_001180305.1:n.2287-42_2287-41insA
NM_198253.3:c.2287-42_2287-41insA MANE Select	NP_937983.2:n.2287-42_2287-41insA
NR_149162.2:n.2366-3689_2366-3688insA
NR_149163.2:n.2330-3689_2330-3688insA
NM_001193376.3:c.2287-42_2287-41insA	NP_001180305.1:n.2287-42_2287-41insA
NR_149162.3:n.2366-3689_2366-3688insA
NR_149163.3:n.2330-3689_2330-3688insA