Canonical Allele Identifier: CA557564620

Gene: TERT

Linked Data

• dbSNP Id: rs1454720614
• gnomAD v2: 5-1260320-CCA-C
• gnomAD v3: 5-1260205-CCA-C
• gnomAD v4: 5-1260205-CCA-C
• MyVariant Identifiers: chr5:g.1260321_1260322del (hg19) ; chr5:g.1260206_1260207del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1260209_1260210del , CM000667.2:g.1260209_1260210del	GRCh38
NC_000005.9:g.1260324_1260325del , CM000667.1:g.1260324_1260325del	GRCh37
NC_000005.8:g.1313324_1313325del	NCBI36
NG_009265.1:g.39841_39842del , LRG_343:g.39841_39842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2970+267_2970+268del MANE Select	ENSP00000309572.5:n.2970+267_2970+268del
ENST00000656021.1:c.*2516+267_*2516+268del	ENSP00000499759.1:n.*2516+267_*2516+268del
ENST00000667927.1:n.258+267_258+268del
ENST00000310581.9:c.2970+267_2970+268del	ENSP00000309572.5:n.2970+267_2970+268del
ENST00000334602.10:c.2781+267_2781+268del	ENSP00000334346.6:n.2781+267_2781+268del
ENST00000460137.6:c.2563+267_2563+268del	ENSP00000425003.1:n.2563+267_2563+268del
ENST00000484238.6:n.1412+267_1412+268del
NM_001193376.1:c.2781+267_2781+268del	NP_001180305.1:n.2781+267_2781+268del
NM_198253.2:c.2970+267_2970+268del , LRG_343t1:c.2970+267_2970+268del	NP_937983.2:n.2970+267_2970+268del
XM_011514104.1:c.1440+267_1440+268del	XP_011512406.1:n.1440+267_1440+268del
XM_011514105.1:c.1326+267_1326+268del	XP_011512407.1:n.1326+267_1326+268del
XM_011514106.1:c.1326+267_1326+268del	XP_011512408.1:n.1326+267_1326+268del
NR_149162.1:n.2657+267_2657+268del
NR_149163.1:n.2621+267_2621+268del
NM_001193376.2:c.2781+267_2781+268del	NP_001180305.1:n.2781+267_2781+268del
NM_198253.3:c.2970+267_2970+268del MANE Select	NP_937983.2:n.2970+267_2970+268del
NR_149162.2:n.2678+267_2678+268del
NR_149163.2:n.2642+267_2642+268del
NM_001193376.3:c.2781+267_2781+268del	NP_001180305.1:n.2781+267_2781+268del
NR_149162.3:n.2678+267_2678+268del
NR_149163.3:n.2642+267_2642+268del