Canonical Allele Identifier: CA557858664

Gene: TERT

Linked Data

• dbSNP Id: rs1381837667
• gnomAD v2: 5-1294897-AGGGGGCGGCG-A
• gnomAD v4: 5-1294782-AGGGGGCGGCG-A
• MyVariant Identifiers: chr5:g.1294898_1294907del (hg19) ; chr5:g.1294783_1294792del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1294792_1294801del , CM000667.2:g.1294792_1294801del	GRCh38
NC_000005.9:g.1294907_1294916del , CM000667.1:g.1294907_1294916del	GRCh37
NC_000005.8:g.1347907_1347916del	NCBI36
NG_009265.1:g.5256_5265del , LRG_343:g.5256_5265del

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.198_207del MANE Select	ENSP00000309572.5:p.Ala67ProfsTer8
ENST00000656021.1:c.198_207del	ENSP00000499759.1:p.Ala67ProfsTer8
ENST00000310581.9:c.198_207del	ENSP00000309572.5:p.Ala67ProfsTer8
ENST00000334602.10:c.198_207del	ENSP00000334346.6:p.Ala67ProfsTer8
ENST00000460137.6:c.198_207del	ENSP00000425003.1:p.Ala67ProfsTer8
ENST00000508104.2:c.198_207del	ENSP00000426042.2:p.Ala67ProfsTer8
ENST00000522877.1:n.278_287del
NM_001193376.1:c.198_207del	NP_001180305.1:p.Ala67ProfsTer8
NM_198253.2:c.198_207del , LRG_343t1:c.198_207del	NP_937983.2:p.Ala67ProfsTer8
NR_149162.1:n.256_265del
NR_149163.1:n.256_265del
NM_001193376.2:c.198_207del	NP_001180305.1:p.Ala67ProfsTer8
NM_198253.3:c.198_207del MANE Select	NP_937983.2:p.Ala67ProfsTer8
NR_149162.2:n.277_286del
NR_149163.2:n.277_286del
NM_001193376.3:c.198_207del	NP_001180305.1:p.Ala67ProfsTer8
NR_149162.3:n.277_286del
NR_149163.3:n.277_286del