Canonical Allele Identifier: CA1072505732

Gene: TERT

Linked Data

• dbSNP Id: rs1749528244
• gnomAD v3: 5-1275799-CTCCACAGATCCCCACCTACCCCACACATGAAAACCAAT-C
• gnomAD v4: 5-1275799-CTCCACAGATCCCCACCTACCCCACACATGAAAACCAAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1275800_1275837del , CM000667.2:g.1275800_1275837del	GRCh38
NC_000005.9:g.1275915_1275952del , CM000667.1:g.1275915_1275952del	GRCh37
NC_000005.8:g.1328915_1328952del	NCBI36
NG_009265.1:g.24211_24248del , LRG_343:g.24211_24248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2286+2804_2286+2841del MANE Select	ENSP00000309572.5:n.2286+2804_2286+2841del
ENST00000656021.1:c.*1832+2804_*1832+2841del	ENSP00000499759.1:n.*1832+2804_*1832+2841del
ENST00000310581.9:c.2286+2804_2286+2841del	ENSP00000309572.5:n.2286+2804_2286+2841del
ENST00000334602.10:c.2286+2804_2286+2841del	ENSP00000334346.6:n.2286+2804_2286+2841del
ENST00000460137.6:c.2250+2804_2250+2841del	ENSP00000425003.1:n.2250+2804_2250+2841del
ENST00000484238.6:n.1099+2804_1099+2841del
ENST00000508104.2:c.2286+2804_2286+2841del	ENSP00000426042.2:n.2286+2804_2286+2841del
NM_001193376.1:c.2286+2804_2286+2841del	NP_001180305.1:n.2286+2804_2286+2841del
NM_198253.2:c.2286+2804_2286+2841del , LRG_343t1:c.2286+2804_2286+2841del	NP_937983.2:n.2286+2804_2286+2841del
XM_011514104.1:c.756+2804_756+2841del	XP_011512406.1:n.756+2804_756+2841del
XM_011514105.1:c.642+2804_642+2841del	XP_011512407.1:n.642+2804_642+2841del
XM_011514106.1:c.642+2804_642+2841del	XP_011512408.1:n.642+2804_642+2841del
NR_149162.1:n.2344+2804_2344+2841del
NR_149163.1:n.2308+2804_2308+2841del
NM_001193376.2:c.2286+2804_2286+2841del	NP_001180305.1:n.2286+2804_2286+2841del
NM_198253.3:c.2286+2804_2286+2841del MANE Select	NP_937983.2:n.2286+2804_2286+2841del
NR_149162.2:n.2365+2804_2365+2841del
NR_149163.2:n.2329+2804_2329+2841del
NM_001193376.3:c.2286+2804_2286+2841del	NP_001180305.1:n.2286+2804_2286+2841del
NR_149162.3:n.2365+2804_2365+2841del
NR_149163.3:n.2329+2804_2329+2841del