Canonical Allele Identifier: CA3184586

Gene: TERT

Linked Data

• dbSNP Id: rs764283259
• ExAC: 5:1272399 C / CCTTGCGGACGTGCCCATGGGCGGCCTTCTGGACCA
• gnomAD v2: 5-1272399-C-CCTTGCGGACGTGCCCATGGGCGGCCTTCTGGACCA
• MyVariant Identifiers: chr5:g.1272399_1272400insCTTGCGGACGTGCCCATGGGCGGCCTTCTGGACCA (hg19) ; chr5:g.1272284_1272285insCTTGCGGACGTGCCCATGGGCGGCCTTCTGGACCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1272285_1272286insTTGCGGACGTGCCCATGGGCGGCCTTCTGGACCAC , CM000667.2:g.1272285_1272286insTTGCGGACGTGCCCATGGGCGGCCTTCTGGACCAC	GRCh38
NC_000005.9:g.1272400_1272401insTTGCGGACGTGCCCATGGGCGGCCTTCTGGACCAC , CM000667.1:g.1272400_1272401insTTGCGGACGTGCCCATGGGCGGCCTTCTGGACCAC	GRCh37
NC_000005.8:g.1325400_1325401insTTGCGGACGTGCCCATGGGCGGCCTTCTGGACCAC	NCBI36
NG_009265.1:g.27763_27764insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG , LRG_343:g.27763_27764insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2287-5_2287-4insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG MANE Select	ENSP00000309572.5:n.2287-5_2287-4insTGGTCCAGAAGGCCGCCCATGGGCA...
ENST00000656021.1:c.*1833-5_*1833-4insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG	ENSP00000499759.1:n.*1833-5_*1833-4insTGGTCCAGAAGGCCGCCCATGGG...
ENST00000310581.9:c.2287-5_2287-4insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG	ENSP00000309572.5:n.2287-5_2287-4insTGGTCCAGAAGGCCGCCCATGGGCA...
ENST00000334602.10:c.2287-5_2287-4insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG	ENSP00000334346.6:n.2287-5_2287-4insTGGTCCAGAAGGCCGCCCATGGGCA...
ENST00000460137.6:c.2251-3652_2251-3651insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG	ENSP00000425003.1:n.2251-3652_2251-3651insTGGTCCAGAAGGCCGCCCA...
ENST00000484238.6:n.1100-3652_1100-3651insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG
ENST00000508104.2:c.2287-3652_2287-3651insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG	ENSP00000426042.2:n.2287-3652_2287-3651insTGGTCCAGAAGGCCGCCCA...
NM_001193376.1:c.2287-5_2287-4insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG	NP_001180305.1:n.2287-5_2287-4insTGGTCCAGAAGGCCGCCCATGGGCACGT...
NM_198253.2:c.2287-5_2287-4insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG , LRG_343t1:c.2287-5_2287-4insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG	NP_937983.2:n.2287-5_2287-4insTGGTCCAGAAGGCCGCCCATGGGCACGTCCG...
XM_011514104.1:c.757-5_757-4insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG	XP_011512406.1:n.757-5_757-4insTGGTCCAGAAGGCCGCCCATGGGCACGTCC...
XM_011514105.1:c.643-5_643-4insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG	XP_011512407.1:n.643-5_643-4insTGGTCCAGAAGGCCGCCCATGGGCACGTCC...
XM_011514106.1:c.643-5_643-4insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG	XP_011512408.1:n.643-5_643-4insTGGTCCAGAAGGCCGCCCATGGGCACGTCC...
NR_149162.1:n.2345-3652_2345-3651insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG
NR_149163.1:n.2309-3652_2309-3651insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG
NM_001193376.2:c.2287-5_2287-4insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG	NP_001180305.1:n.2287-5_2287-4insTGGTCCAGAAGGCCGCCCATGGGCACGT...
NM_198253.3:c.2287-5_2287-4insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG MANE Select	NP_937983.2:n.2287-5_2287-4insTGGTCCAGAAGGCCGCCCATGGGCACGTCCG...
NR_149162.2:n.2366-3652_2366-3651insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG
NR_149163.2:n.2330-3652_2330-3651insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG
NM_001193376.3:c.2287-5_2287-4insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG	NP_001180305.1:n.2287-5_2287-4insTGGTCCAGAAGGCCGCCCATGGGCACGT...
NR_149162.3:n.2366-3652_2366-3651insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG
NR_149163.3:n.2330-3652_2330-3651insTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAG