Canonical Allele Identifier: CA3184549

Gene: TERT

Linked Data

• dbSNP Id: rs779691765
• ExAC: 5:1272287 GC / G
• gnomAD v2: 5-1272287-GC-G
• MyVariant Identifiers: chr5:g.1272288del (hg19) ; chr5:g.1272173del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1272173del , CM000667.2:g.1272173del	GRCh38
NC_000005.9:g.1272288del , CM000667.1:g.1272288del	GRCh37
NC_000005.8:g.1325288del	NCBI36
NG_009265.1:g.27875del , LRG_343:g.27875del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2382+12del MANE Select	ENSP00000309572.5:n.2382+12del
ENST00000656021.1:c.*1928+12del	ENSP00000499759.1:n.*1928+12del
ENST00000310581.9:c.2382+12del	ENSP00000309572.5:n.2382+12del
ENST00000334602.10:c.2382+12del	ENSP00000334346.6:n.2382+12del
ENST00000460137.6:c.2251-3540del	ENSP00000425003.1:n.2251-3540del
ENST00000484238.6:n.1100-3540del
ENST00000508104.2:c.2287-3540del	ENSP00000426042.2:n.2287-3540del
NM_001193376.1:c.2382+12del	NP_001180305.1:n.2382+12del
NM_198253.2:c.2382+12del , LRG_343t1:c.2382+12del	NP_937983.2:n.2382+12del
XM_011514104.1:c.852+12del	XP_011512406.1:n.852+12del
XM_011514105.1:c.738+12del	XP_011512407.1:n.738+12del
XM_011514106.1:c.738+12del	XP_011512408.1:n.738+12del
NR_149162.1:n.2345-3540del
NR_149163.1:n.2309-3540del
NM_001193376.2:c.2382+12del	NP_001180305.1:n.2382+12del
NM_198253.3:c.2382+12del MANE Select	NP_937983.2:n.2382+12del
NR_149162.2:n.2366-3540del
NR_149163.2:n.2330-3540del
NM_001193376.3:c.2382+12del	NP_001180305.1:n.2382+12del
NR_149162.3:n.2366-3540del
NR_149163.3:n.2330-3540del