Canonical Allele Identifier: CA359069515

Gene: TERT

Linked Data

• dbSNP Id: rs1554038790
• gnomAD v2: 5-1260509-A-ATG
• gnomAD v3: 5-1260394-A-ATG
• gnomAD v4: 5-1260394-A-ATG
• MyVariant Identifiers: chr5:g.1260509_1260510insTG (hg19) ; chr5:g.1260510_1260511delinsTGCG (hg19) ; chr5:g.1260394_1260395insTG (hg38) ; chr5:g.1260395_1260396delinsTGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1260394_1260395insTG , CM000667.2:g.1260394_1260395insTG	GRCh38
NC_000005.9:g.1260509_1260510insTG , CM000667.1:g.1260509_1260510insTG	GRCh37
NC_000005.8:g.1313509_1313510insTG	NCBI36
NG_009265.1:g.39653_39654insCA , LRG_343:g.39653_39654insCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2970+79_2970+80insCA MANE Select	ENSP00000309572.5:n.2970+79_2970+80insCA
ENST00000656021.1:c.*2516+79_*2516+80insCA	ENSP00000499759.1:n.*2516+79_*2516+80insCA
ENST00000667927.1:n.258+79_258+80insCA
ENST00000310581.9:c.2970+79_2970+80insCA	ENSP00000309572.5:n.2970+79_2970+80insCA
ENST00000334602.10:c.2781+79_2781+80insCA	ENSP00000334346.6:n.2781+79_2781+80insCA
ENST00000460137.6:c.2563+79_2563+80insCA	ENSP00000425003.1:n.2563+79_2563+80insCA
ENST00000484238.6:n.1412+79_1412+80insCA
NM_001193376.1:c.2781+79_2781+80insCA	NP_001180305.1:n.2781+79_2781+80insCA
NM_198253.2:c.2970+79_2970+80insCA , LRG_343t1:c.2970+79_2970+80insCA	NP_937983.2:n.2970+79_2970+80insCA
XM_011514104.1:c.1440+79_1440+80insCA	XP_011512406.1:n.1440+79_1440+80insCA
XM_011514105.1:c.1326+79_1326+80insCA	XP_011512407.1:n.1326+79_1326+80insCA
XM_011514106.1:c.1326+79_1326+80insCA	XP_011512408.1:n.1326+79_1326+80insCA
NR_149162.1:n.2657+79_2657+80insCA
NR_149163.1:n.2621+79_2621+80insCA
NM_001193376.2:c.2781+79_2781+80insCA	NP_001180305.1:n.2781+79_2781+80insCA
NM_198253.3:c.2970+79_2970+80insCA MANE Select	NP_937983.2:n.2970+79_2970+80insCA
NR_149162.2:n.2678+79_2678+80insCA
NR_149163.2:n.2642+79_2642+80insCA
NM_001193376.3:c.2781+79_2781+80insCA	NP_001180305.1:n.2781+79_2781+80insCA
NR_149162.3:n.2678+79_2678+80insCA
NR_149163.3:n.2642+79_2642+80insCA