Canonical Allele Identifier: CA557569779

Gene: TERT

Linked Data

• dbSNP Id: rs1483862160
• gnomAD v2: 5-1279392-TC-T
• gnomAD v4: 5-1279277-TC-T
• MyVariant Identifiers: chr5:g.1279393del (hg19) ; chr5:g.1279278del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1279281del , CM000667.2:g.1279281del	GRCh38
NC_000005.9:g.1279396del , CM000667.1:g.1279396del	GRCh37
NC_000005.8:g.1332396del	NCBI36
NG_009265.1:g.20770del , LRG_343:g.20770del

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2130+13del MANE Select	ENSP00000309572.5:n.2130+13del
ENST00000656021.1:c.*1676+13del	ENSP00000499759.1:n.*1676+13del
ENST00000310581.9:c.2130+13del	ENSP00000309572.5:n.2130+13del
ENST00000334602.10:c.2130+13del	ENSP00000334346.6:n.2130+13del
ENST00000460137.6:c.2130+13del	ENSP00000425003.1:n.2130+13del
ENST00000484238.6:n.943+13del
ENST00000508104.2:c.2130+13del	ENSP00000426042.2:n.2130+13del
NM_001193376.1:c.2130+13del	NP_001180305.1:n.2130+13del
NM_198253.2:c.2130+13del , LRG_343t1:c.2130+13del	NP_937983.2:n.2130+13del
XM_011514104.1:c.600+13del	XP_011512406.1:n.600+13del
XM_011514105.1:c.486+13del	XP_011512407.1:n.486+13del
XM_011514106.1:c.486+13del	XP_011512408.1:n.486+13del
NR_149162.1:n.2188+13del
NR_149163.1:n.2188+13del
NM_001193376.2:c.2130+13del	NP_001180305.1:n.2130+13del
NM_198253.3:c.2130+13del MANE Select	NP_937983.2:n.2130+13del
NR_149162.2:n.2209+13del
NR_149163.2:n.2209+13del
NM_001193376.3:c.2130+13del	NP_001180305.1:n.2130+13del
NR_149162.3:n.2209+13del
NR_149163.3:n.2209+13del