Canonical Allele Identifier: CA122667
Gene: TERT HGNC NCBI

Linked Data

ClinVar Variation Id: 12737
ClinVar RCV Id: RCV000013574 RCV000032381 RCV001560896 RCV002509154
dbSNP Id: rs199422300
MyVariant Identifiers: chr5:g.1278802del (hg19) chr5:g.1278687del (hg38)
PubMed: PMID:17460043 PMID:20301779
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1278687del , CM000667.2:g.1278687del GRCh38
NC_000005.9:g.1278802del , CM000667.1:g.1278802del GRCh37
NC_000005.8:g.1331802del NCBI36
NG_009265.1:g.21361del , LRG_343:g.21361del

Transcript Alleles

HGVS Amino-acid change
ENST00000310581.10:c.2240del MANE Select ENSP00000309572.5:p.Val747AlafsTer20
ENST00000656021.1:c.*1786del ENSP00000499759.1:n.*1786del
ENST00000310581.9:c.2240del ENSP00000309572.5:p.Val747AlafsTer20
ENST00000334602.10:c.2240del ENSP00000334346.6:p.Val747AlafsTer20
ENST00000460137.6:c.2204del ENSP00000425003.1:p.Val735AlafsTer?
ENST00000484238.6:n.1053del
ENST00000508104.2:c.2240del ENSP00000426042.2:p.Val747AlafsTer?
NM_001193376.1:c.2240del NP_001180305.1:p.Val747AlafsTer20
NM_198253.2:c.2240del , LRG_343t1:c.2240del NP_937983.2:p.Val747AlafsTer20
XM_011514104.1:c.710del XP_011512406.1:p.Val237AlafsTer20
XM_011514105.1:c.596del XP_011512407.1:p.Val199AlafsTer20
XM_011514106.1:c.596del XP_011512408.1:p.Val199AlafsTer20
NR_149162.1:n.2298del
NR_149163.1:n.2262del
NM_001193376.2:c.2240del NP_001180305.1:p.Val747AlafsTer20
NM_198253.3:c.2240del MANE Select NP_937983.2:p.Val747AlafsTer20
NR_149162.2:n.2319del
NR_149163.2:n.2283del
NM_001193376.3:c.2240del NP_001180305.1:p.Val747AlafsTer20
NR_149162.3:n.2319del
NR_149163.3:n.2283del
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