Canonical Allele Identifier: CA891842954

Gene: TERT

Linked Data

• ClinVar Variation Id: 576317
• ClinVar RCV Id: RCV002533542
• dbSNP Id: rs1561214640
• MyVariant Identifiers: chr5:g.1294454_1294480dup (hg19) ; chr5:g.1294339_1294365dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1294340_1294366dup , CM000667.2:g.1294340_1294366dup	GRCh38
NC_000005.9:g.1294455_1294481dup , CM000667.1:g.1294455_1294481dup	GRCh37
NC_000005.8:g.1347455_1347481dup	NCBI36
NG_009265.1:g.5683_5709dup , LRG_343:g.5683_5709dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.521_547dup MANE Select	ENSP00000309572.5:p.Thr182_Gln183insProLeuTyrGlnLeuGlyAlaAlaT...
ENST00000656021.1:c.521_547dup	ENSP00000499759.1:p.Thr182_Gln183insProLeuTyrGlnLeuGlyAlaAlaT...
ENST00000310581.9:c.521_547dup	ENSP00000309572.5:p.Thr182_Gln183insProLeuTyrGlnLeuGlyAlaAlaT...
ENST00000334602.10:c.521_547dup	ENSP00000334346.6:p.Thr182_Gln183insProLeuTyrGlnLeuGlyAlaAlaT...
ENST00000460137.6:c.521_547dup	ENSP00000425003.1:p.Thr182_Gln183insProLeuTyrGlnLeuGlyAlaAlaT...
ENST00000508104.2:c.521_547dup	ENSP00000426042.2:p.Thr182_Gln183insProLeuTyrGlnLeuGlyAlaAlaT...
NM_001193376.1:c.521_547dup	NP_001180305.1:p.Thr182_Gln183insProLeuTyrGlnLeuGlyAlaAlaThr
NM_198253.2:c.521_547dup , LRG_343t1:c.521_547dup	NP_937983.2:p.Thr182_Gln183insProLeuTyrGlnLeuGlyAlaAlaThr
NR_149162.1:n.579_605dup
NR_149163.1:n.579_605dup
NM_001193376.2:c.521_547dup	NP_001180305.1:p.Thr182_Gln183insProLeuTyrGlnLeuGlyAlaAlaThr
NM_198253.3:c.521_547dup MANE Select	NP_937983.2:p.Thr182_Gln183insProLeuTyrGlnLeuGlyAlaAlaThr
NR_149162.2:n.600_626dup
NR_149163.2:n.600_626dup
NM_001193376.3:c.521_547dup	NP_001180305.1:p.Thr182_Gln183insProLeuTyrGlnLeuGlyAlaAlaThr
NR_149162.3:n.600_626dup
NR_149163.3:n.600_626dup