Canonical Allele Identifier: CA557569271

Gene: TERT

Linked Data

• gnomAD v2: 5-1275839-CCCACAGATCCCCACCTATCCCACACATGAAAACCAATCCCACAGATCTCCACCTACCCCACACATGAAAACCAACT-C
• gnomAD v3: 5-1275724-CCCACAGATCCCCACCTATCCCACACATGAAAACCAATCCCACAGATCTCCACCTACCCCACACATGAAAACCAACT-C
• gnomAD v4: 5-1275724-CCCACAGATCCCCACCTATCCCACACATGAAAACCAATCCCACAGATCTCCACCTACCCCACACATGAAAACCAACT-C
• MyVariant Identifiers: chr5:g.1275840_1275915del (hg19) ; chr5:g.1275725_1275800del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1275742_1275817del , CM000667.2:g.1275742_1275817del	GRCh38
NC_000005.9:g.1275857_1275932del , CM000667.1:g.1275857_1275932del	GRCh37
NC_000005.8:g.1328857_1328932del	NCBI36
NG_009265.1:g.24248_24323del , LRG_343:g.24248_24323del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2286+2841_2286+2916del MANE Select	ENSP00000309572.5:n.2286+2841_2286+2916del
ENST00000656021.1:c.*1832+2841_*1832+2916del	ENSP00000499759.1:n.*1832+2841_*1832+2916del
ENST00000310581.9:c.2286+2841_2286+2916del	ENSP00000309572.5:n.2286+2841_2286+2916del
ENST00000334602.10:c.2286+2841_2286+2916del	ENSP00000334346.6:n.2286+2841_2286+2916del
ENST00000460137.6:c.2250+2841_2250+2916del	ENSP00000425003.1:n.2250+2841_2250+2916del
ENST00000484238.6:n.1099+2841_1099+2916del
ENST00000508104.2:c.2286+2841_2286+2916del	ENSP00000426042.2:n.2286+2841_2286+2916del
NM_001193376.1:c.2286+2841_2286+2916del	NP_001180305.1:n.2286+2841_2286+2916del
NM_198253.2:c.2286+2841_2286+2916del , LRG_343t1:c.2286+2841_2286+2916del	NP_937983.2:n.2286+2841_2286+2916del
XM_011514104.1:c.756+2841_756+2916del	XP_011512406.1:n.756+2841_756+2916del
XM_011514105.1:c.642+2841_642+2916del	XP_011512407.1:n.642+2841_642+2916del
XM_011514106.1:c.642+2841_642+2916del	XP_011512408.1:n.642+2841_642+2916del
NR_149162.1:n.2344+2841_2344+2916del
NR_149163.1:n.2308+2841_2308+2916del
NM_001193376.2:c.2286+2841_2286+2916del	NP_001180305.1:n.2286+2841_2286+2916del
NM_198253.3:c.2286+2841_2286+2916del MANE Select	NP_937983.2:n.2286+2841_2286+2916del
NR_149162.2:n.2365+2841_2365+2916del
NR_149163.2:n.2329+2841_2329+2916del
NM_001193376.3:c.2286+2841_2286+2916del	NP_001180305.1:n.2286+2841_2286+2916del
NR_149162.3:n.2365+2841_2365+2916del
NR_149163.3:n.2329+2841_2329+2916del