Canonical Allele Identifier: CA3185009

Gene: TERT

Linked Data

• dbSNP Id: rs775014614
• ExAC: 5:1294824 TGTCGCTG / T
• gnomAD v2: 5-1294824-TGTCGCTG-T
• gnomAD v3: 5-1294709-TGTCGCTG-T
• gnomAD v4: 5-1294709-TGTCGCTG-T
• MyVariant Identifiers: chr5:g.1294825_1294831del (hg19) ; chr5:g.1294710_1294716del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1294712_1294718del , CM000667.2:g.1294712_1294718del	GRCh38
NC_000005.9:g.1294827_1294833del , CM000667.1:g.1294827_1294833del	GRCh37
NC_000005.8:g.1347827_1347833del	NCBI36
NG_009265.1:g.5332_5338del , LRG_343:g.5332_5338del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.220-50_220-44del MANE Select	ENSP00000309572.5:n.220-50_220-44del
ENST00000656021.1:c.220-50_220-44del	ENSP00000499759.1:n.220-50_220-44del
ENST00000310581.9:c.220-50_220-44del	ENSP00000309572.5:n.220-50_220-44del
ENST00000334602.10:c.220-50_220-44del	ENSP00000334346.6:n.220-50_220-44del
ENST00000460137.6:c.220-50_220-44del	ENSP00000425003.1:n.220-50_220-44del
ENST00000508104.2:c.220-50_220-44del	ENSP00000426042.2:n.220-50_220-44del
ENST00000522877.1:n.300-50_300-44del
NM_001193376.1:c.220-50_220-44del	NP_001180305.1:n.220-50_220-44del
NM_198253.2:c.220-50_220-44del , LRG_343t1:c.220-50_220-44del	NP_937983.2:n.220-50_220-44del
NR_149162.1:n.278-50_278-44del
NR_149163.1:n.278-50_278-44del
NM_001193376.2:c.220-50_220-44del	NP_001180305.1:n.220-50_220-44del
NM_198253.3:c.220-50_220-44del MANE Select	NP_937983.2:n.220-50_220-44del
NR_149162.2:n.299-50_299-44del
NR_149163.2:n.299-50_299-44del
NM_001193376.3:c.220-50_220-44del	NP_001180305.1:n.220-50_220-44del
NR_149162.3:n.299-50_299-44del
NR_149163.3:n.299-50_299-44del