Canonical Allele Identifier: CA658796486

Gene: TERT

Linked Data

• ClinVar Variation Id: 523957
• ClinVar RCV Id: RCV000627447 ; RCV002331097 ; RCV002509477
• dbSNP Id: rs1554038539
• MyVariant Identifiers: chr5:g.1258754del (hg19) ; chr5:g.1258639del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1258639del , CM000667.2:g.1258639del	GRCh38
NC_000005.9:g.1258754del , CM000667.1:g.1258754del	GRCh37
NC_000005.8:g.1311754del	NCBI36
NG_009265.1:g.41409del , LRG_343:g.41409del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2991del MANE Select	ENSP00000309572.5:p.Cys998AlafsTer?
ENST00000656021.1:c.*2537del	ENSP00000499759.1:n.*2537del
ENST00000667927.1:n.279del
ENST00000310581.9:c.2991del	ENSP00000309572.5:p.Cys998AlafsTer?
ENST00000334602.10:c.2802del	ENSP00000334346.6:p.Cys935AlafsTer?
ENST00000460137.6:c.2584del	ENSP00000425003.1:n.2584del
ENST00000484238.6:n.1433del
NM_001193376.1:c.2802del	NP_001180305.1:p.Cys935AlafsTer?
NM_198253.2:c.2991del , LRG_343t1:c.2991del	NP_937983.2:p.Cys998AlafsTer?
XM_011514104.1:c.1461del	XP_011512406.1:p.Cys488AlafsTer?
XM_011514105.1:c.1347del	XP_011512407.1:p.Cys450AlafsTer?
XM_011514106.1:c.1347del	XP_011512408.1:p.Cys450AlafsTer?
NR_149162.1:n.2678del
NR_149163.1:n.2642del
NM_001193376.2:c.2802del	NP_001180305.1:p.Cys935AlafsTer?
NM_198253.3:c.2991del MANE Select	NP_937983.2:p.Cys998AlafsTer?
NR_149162.2:n.2699del
NR_149163.2:n.2663del
NM_001193376.3:c.2802del	NP_001180305.1:p.Cys935AlafsTer?
NR_149162.3:n.2699del
NR_149163.3:n.2663del