Canonical Allele Identifier: CA557569989

Gene: TERT

Linked Data

• dbSNP Id: rs1232105583
• gnomAD v2: 5-1279846-CGCAGCCACA-C
• gnomAD v3: 5-1279731-CGCAGCCACA-C
• gnomAD v4: 5-1279731-CGCAGCCACA-C
• MyVariant Identifiers: chr5:g.1279847_1279855del (hg19) ; chr5:g.1279732_1279740del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1279733_1279741del , CM000667.2:g.1279733_1279741del	GRCh38
NC_000005.9:g.1279848_1279856del , CM000667.1:g.1279848_1279856del	GRCh37
NC_000005.8:g.1332848_1332856del	NCBI36
NG_009265.1:g.20308_20316del , LRG_343:g.20308_20316del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.1951-270_1951-262del MANE Select	ENSP00000309572.5:n.1951-270_1951-262del
ENST00000656021.1:c.*1497-270_*1497-262del	ENSP00000499759.1:n.*1497-270_*1497-262del
ENST00000310581.9:c.1951-270_1951-262del	ENSP00000309572.5:n.1951-270_1951-262del
ENST00000334602.10:c.1951-270_1951-262del	ENSP00000334346.6:n.1951-270_1951-262del
ENST00000460137.6:c.1951-270_1951-262del	ENSP00000425003.1:n.1951-270_1951-262del
ENST00000484238.6:n.764-270_764-262del
ENST00000508104.2:c.1951-270_1951-262del	ENSP00000426042.2:n.1951-270_1951-262del
NM_001193376.1:c.1951-270_1951-262del	NP_001180305.1:n.1951-270_1951-262del
NM_198253.2:c.1951-270_1951-262del , LRG_343t1:c.1951-270_1951-262del	NP_937983.2:n.1951-270_1951-262del
XM_011514104.1:c.421-270_421-262del	XP_011512406.1:n.421-270_421-262del
XM_011514105.1:c.307-270_307-262del	XP_011512407.1:n.307-270_307-262del
XM_011514106.1:c.307-270_307-262del	XP_011512408.1:n.307-270_307-262del
NR_149162.1:n.2009-270_2009-262del
NR_149163.1:n.2009-270_2009-262del
NM_001193376.2:c.1951-270_1951-262del	NP_001180305.1:n.1951-270_1951-262del
NM_198253.3:c.1951-270_1951-262del MANE Select	NP_937983.2:n.1951-270_1951-262del
NR_149162.2:n.2030-270_2030-262del
NR_149163.2:n.2030-270_2030-262del
NM_001193376.3:c.1951-270_1951-262del	NP_001180305.1:n.1951-270_1951-262del
NR_149162.3:n.2030-270_2030-262del
NR_149163.3:n.2030-270_2030-262del