Canonical Allele Identifier: CA2578275547
Gene: TERT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1271058_1271068del , CM000667.2:g.1271058_1271068del GRCh38
NC_000005.9:g.1271173_1271183del , CM000667.1:g.1271173_1271183del GRCh37
NC_000005.8:g.1324173_1324183del NCBI36
NG_009265.1:g.28982_28992del , LRG_343:g.28982_28992del

Transcript Alleles

HGVS Amino-acid change
ENST00000310581.10:c.2468+53_2468+63del MANE Select ENSP00000309572.5:n.2468+53_2468+63del
ENST00000656021.1:c.*2014+53_*2014+63del ENSP00000499759.1:n.*2014+53_*2014+63del
ENST00000310581.9:c.2468+53_2468+63del ENSP00000309572.5:n.2468+53_2468+63del
ENST00000334602.10:c.2468+53_2468+63del ENSP00000334346.6:n.2468+53_2468+63del
ENST00000460137.6:c.2251-2433_2251-2423del ENSP00000425003.1:n.2251-2433_2251-2423de...
ENST00000484238.6:n.1100-2433_1100-2423del
ENST00000508104.2:c.2287-2433_2287-2423del ENSP00000426042.2:n.2287-2433_2287-2423de...
NM_001193376.1:c.2468+53_2468+63del NP_001180305.1:n.2468+53_2468+63del
NM_198253.2:c.2468+53_2468+63del , LRG_343t1:c.2468+53_2468+63del NP_937983.2:n.2468+53_2468+63del
XM_011514104.1:c.938+53_938+63del XP_011512406.1:n.938+53_938+63del
XM_011514105.1:c.824+53_824+63del XP_011512407.1:n.824+53_824+63del
XM_011514106.1:c.824+53_824+63del XP_011512408.1:n.824+53_824+63del
NR_149162.1:n.2345-2433_2345-2423del
NR_149163.1:n.2309-2433_2309-2423del
NM_001193376.2:c.2468+53_2468+63del NP_001180305.1:n.2468+53_2468+63del
NM_198253.3:c.2468+53_2468+63del MANE Select NP_937983.2:n.2468+53_2468+63del
NR_149162.2:n.2366-2433_2366-2423del
NR_149163.2:n.2330-2433_2330-2423del
NM_001193376.3:c.2468+53_2468+63del NP_001180305.1:n.2468+53_2468+63del
NR_149162.3:n.2366-2433_2366-2423del
NR_149163.3:n.2330-2433_2330-2423del