Canonical Allele Identifier: CA557569288

Gene: TERT

Linked Data

• dbSNP Id: rs1749525914
• gnomAD v2: 5-1275898-CACACATGAAAACCAACTCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCTCCACCTACCCT-C
• gnomAD v3: 5-1275783-CACACATGAAAACCAACTCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCTCCACCTACCCT-C
• gnomAD v4: 5-1275783-CACACATGAAAACCAACTCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCCCCACCTACCCCACACATGAAAACCAATCCCACAGATCTCCACCTACCCT-C
• MyVariant Identifiers: chr5:g.1275899_1276050del (hg19) ; chr5:g.1275784_1275935del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1275822_1275973del , CM000667.2:g.1275822_1275973del	GRCh38
NC_000005.9:g.1275937_1276088del , CM000667.1:g.1275937_1276088del	GRCh37
NC_000005.8:g.1328937_1329088del	NCBI36
NG_009265.1:g.24113_24264del , LRG_343:g.24113_24264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2286+2706_2286+2857del MANE Select	ENSP00000309572.5:n.2286+2706_2286+2857del
ENST00000656021.1:c.*1832+2706_*1832+2857del	ENSP00000499759.1:n.*1832+2706_*1832+2857del
ENST00000310581.9:c.2286+2706_2286+2857del	ENSP00000309572.5:n.2286+2706_2286+2857del
ENST00000334602.10:c.2286+2706_2286+2857del	ENSP00000334346.6:n.2286+2706_2286+2857del
ENST00000460137.6:c.2250+2706_2250+2857del	ENSP00000425003.1:n.2250+2706_2250+2857del
ENST00000484238.6:n.1099+2706_1099+2857del
ENST00000508104.2:c.2286+2706_2286+2857del	ENSP00000426042.2:n.2286+2706_2286+2857del
NM_001193376.1:c.2286+2706_2286+2857del	NP_001180305.1:n.2286+2706_2286+2857del
NM_198253.2:c.2286+2706_2286+2857del , LRG_343t1:c.2286+2706_2286+2857del	NP_937983.2:n.2286+2706_2286+2857del
XM_011514104.1:c.756+2706_756+2857del	XP_011512406.1:n.756+2706_756+2857del
XM_011514105.1:c.642+2706_642+2857del	XP_011512407.1:n.642+2706_642+2857del
XM_011514106.1:c.642+2706_642+2857del	XP_011512408.1:n.642+2706_642+2857del
NR_149162.1:n.2344+2706_2344+2857del
NR_149163.1:n.2308+2706_2308+2857del
NM_001193376.2:c.2286+2706_2286+2857del	NP_001180305.1:n.2286+2706_2286+2857del
NM_198253.3:c.2286+2706_2286+2857del MANE Select	NP_937983.2:n.2286+2706_2286+2857del
NR_149162.2:n.2365+2706_2365+2857del
NR_149163.2:n.2329+2706_2329+2857del
NM_001193376.3:c.2286+2706_2286+2857del	NP_001180305.1:n.2286+2706_2286+2857del
NR_149162.3:n.2365+2706_2365+2857del
NR_149163.3:n.2329+2706_2329+2857del