Canonical Allele Identifier: CA803617052

Gene: TERT

Linked Data

• dbSNP Id: rs1276242547
• gnomAD v3: 5-1285953-CCAAG-C
• gnomAD v4: 5-1285953-CCAAG-C
• MyVariant Identifiers: chr5:g.1286069_1286072del (hg19) ; chr5:g.1285954_1285957del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1285956_1285959del , CM000667.2:g.1285956_1285959del	GRCh38
NC_000005.9:g.1286071_1286074del , CM000667.1:g.1286071_1286074del	GRCh37
NC_000005.8:g.1339071_1339074del	NCBI36
NG_009265.1:g.14091_14094del , LRG_343:g.14091_14094del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.1574-3333_1574-3330del MANE Select	ENSP00000309572.5:n.1574-3333_1574-3330del
ENST00000656021.1:c.*1119+208_*1119+211del	ENSP00000499759.1:n.*1119+208_*1119+211del
ENST00000310581.9:c.1574-3333_1574-3330del	ENSP00000309572.5:n.1574-3333_1574-3330del
ENST00000334602.10:c.1574-3333_1574-3330del	ENSP00000334346.6:n.1574-3333_1574-3330del
ENST00000460137.6:c.1574-3333_1574-3330del	ENSP00000425003.1:n.1574-3333_1574-3330del
ENST00000508104.2:c.1574-3333_1574-3330del	ENSP00000426042.2:n.1574-3333_1574-3330del
NM_001193376.1:c.1574-3333_1574-3330del	NP_001180305.1:n.1574-3333_1574-3330del
NM_198253.2:c.1574-3333_1574-3330del , LRG_343t1:c.1574-3333_1574-3330del	NP_937983.2:n.1574-3333_1574-3330del
XM_011514104.1:c.43+208_43+211del	XP_011512406.1:n.43+208_43+211del
XM_011514105.1:c.-72+167_-72+170del	XP_011512407.1:n.-72+167_-72+170del
XM_011514106.1:c.-130_-127del	XP_011512408.1:n.-130_-127del
NR_149162.1:n.1632-3333_1632-3330del
NR_149163.1:n.1632-3333_1632-3330del
NM_001193376.2:c.1574-3333_1574-3330del	NP_001180305.1:n.1574-3333_1574-3330del
NM_198253.3:c.1574-3333_1574-3330del MANE Select	NP_937983.2:n.1574-3333_1574-3330del
NR_149162.2:n.1653-3333_1653-3330del
NR_149163.2:n.1653-3333_1653-3330del
NM_001193376.3:c.1574-3333_1574-3330del	NP_001180305.1:n.1574-3333_1574-3330del
NR_149162.3:n.1653-3333_1653-3330del
NR_149163.3:n.1653-3333_1653-3330del