Canonical Allele Identifier: CA3185000
Gene: TERT HGNC NCBI

Linked Data

ExAC: 5:1294778 ACACCTGCGGGGGAAGCGCCCTGAGTCGCCTGCGCTGCTCTCCGCATGTCGCTGGTTCCCCCCGGCCGCCCTCAACCCCAGCCGGACGCCGACCCCGGGGAGGCC / A
gnomAD v2: 5-1294778-ACACCTGCGGGGGAAGCGCCCTGAGTCGCCTGCGCTGCTCTCCGCATGTCGCTGGTTCCCCCCGGCCGCCCTCAACCCCAGCCGGACGCCGACCCCGGGGAGGCC-A
gnomAD v4: 5-1294663-ACACCTGCGGGGGAAGCGCCCTGAGTCGCCTGCGCTGCTCTCCGCATGTCGCTGGTTCCCCCCGGCCGCCCTCAACCCCAGCCGGACGCCGACCCCGGGGAGGCC-A
MyVariant Identifiers: chr5:g.1294779_1294882del (hg19) chr5:g.1294664_1294767del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1294670_1294773del , CM000667.2:g.1294670_1294773del GRCh38
NC_000005.9:g.1294785_1294888del , CM000667.1:g.1294785_1294888del GRCh37
NC_000005.8:g.1347785_1347888del NCBI36
NG_009265.1:g.5281_5384del , LRG_343:g.5281_5384del

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.219+4_222del
ENST00000656021.1:c.219+4_222del
ENST00000310581.9:c.219+4_222del
ENST00000334602.10:c.219+4_222del
ENST00000460137.6:c.219+4_222del
ENST00000508104.2:c.219+4_222del
ENST00000522877.1:n.299+4_302del
NM_001193376.1:c.219+4_222del
NM_198253.2:c.219+4_222del , LRG_343t1:c.219+4_222del
NR_149162.1:n.277+4_280del
NR_149163.1:n.277+4_280del
NM_001193376.2:c.219+4_222del
NM_198253.3:c.219+4_222del
NR_149162.2:n.298+4_301del
NR_149163.2:n.298+4_301del
NM_001193376.3:c.219+4_222del
NR_149162.3:n.298+4_301del
NR_149163.3:n.298+4_301del
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