Canonical Allele Identifier: CA803362298

Gene: TERT

Linked Data

• dbSNP Id: rs1393220855
• gnomAD v3: 5-1260446-ACT-A
• gnomAD v4: 5-1260446-ACT-A
• MyVariant Identifiers: chr5:g.1260562_1260563del (hg19) ; chr5:g.1260447_1260448del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1260449_1260450del , CM000667.2:g.1260449_1260450del	GRCh38
NC_000005.9:g.1260564_1260565del , CM000667.1:g.1260564_1260565del	GRCh37
NC_000005.8:g.1313564_1313565del	NCBI36
NG_009265.1:g.39600_39601del , LRG_343:g.39600_39601del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2970+26_2970+27del MANE Select	ENSP00000309572.5:n.2970+26_2970+27del
ENST00000656021.1:c.*2516+26_*2516+27del	ENSP00000499759.1:n.*2516+26_*2516+27del
ENST00000667927.1:n.258+26_258+27del
ENST00000310581.9:c.2970+26_2970+27del	ENSP00000309572.5:n.2970+26_2970+27del
ENST00000334602.10:c.2781+26_2781+27del	ENSP00000334346.6:n.2781+26_2781+27del
ENST00000460137.6:c.2563+26_2563+27del	ENSP00000425003.1:n.2563+26_2563+27del
ENST00000484238.6:n.1412+26_1412+27del
NM_001193376.1:c.2781+26_2781+27del	NP_001180305.1:n.2781+26_2781+27del
NM_198253.2:c.2970+26_2970+27del , LRG_343t1:c.2970+26_2970+27del	NP_937983.2:n.2970+26_2970+27del
XM_011514104.1:c.1440+26_1440+27del	XP_011512406.1:n.1440+26_1440+27del
XM_011514105.1:c.1326+26_1326+27del	XP_011512407.1:n.1326+26_1326+27del
XM_011514106.1:c.1326+26_1326+27del	XP_011512408.1:n.1326+26_1326+27del
NR_149162.1:n.2657+26_2657+27del
NR_149163.1:n.2621+26_2621+27del
NM_001193376.2:c.2781+26_2781+27del	NP_001180305.1:n.2781+26_2781+27del
NM_198253.3:c.2970+26_2970+27del MANE Select	NP_937983.2:n.2970+26_2970+27del
NR_149162.2:n.2678+26_2678+27del
NR_149163.2:n.2642+26_2642+27del
NM_001193376.3:c.2781+26_2781+27del	NP_001180305.1:n.2781+26_2781+27del
NR_149162.3:n.2678+26_2678+27del
NR_149163.3:n.2642+26_2642+27del