Canonical Allele Identifier: CA1072505352

Gene: TERT

Linked Data

• gnomAD v3: 5-1275376-C-CAAAAAAAAAAAAAA
• gnomAD v4: 5-1275376-C-CAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1275378_1275391dup , CM000667.2:g.1275378_1275391dup	GRCh38
NC_000005.9:g.1275493_1275506dup , CM000667.1:g.1275493_1275506dup	GRCh37
NC_000005.8:g.1328493_1328506dup	NCBI36
NG_009265.1:g.24658_24671dup , LRG_343:g.24658_24671dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2287-3110_2287-3097dup MANE Select	ENSP00000309572.5:n.2287-3110_2287-3097dup
ENST00000656021.1:c.*1833-3110_*1833-3097dup	ENSP00000499759.1:n.*1833-3110_*1833-3097dup
ENST00000310581.9:c.2287-3110_2287-3097dup	ENSP00000309572.5:n.2287-3110_2287-3097dup
ENST00000334602.10:c.2287-3110_2287-3097dup	ENSP00000334346.6:n.2287-3110_2287-3097dup
ENST00000460137.6:c.2250+3251_2250+3264dup	ENSP00000425003.1:n.2250+3251_2250+3264dup
ENST00000484238.6:n.1099+3251_1099+3264dup
ENST00000508104.2:c.2286+3251_2286+3264dup	ENSP00000426042.2:n.2286+3251_2286+3264dup
NM_001193376.1:c.2287-3110_2287-3097dup	NP_001180305.1:n.2287-3110_2287-3097dup
NM_198253.2:c.2287-3110_2287-3097dup , LRG_343t1:c.2287-3110_2287-3097dup	NP_937983.2:n.2287-3110_2287-3097dup
XM_011514104.1:c.757-3110_757-3097dup	XP_011512406.1:n.757-3110_757-3097dup
XM_011514105.1:c.643-3110_643-3097dup	XP_011512407.1:n.643-3110_643-3097dup
XM_011514106.1:c.643-3110_643-3097dup	XP_011512408.1:n.643-3110_643-3097dup
NR_149162.1:n.2344+3251_2344+3264dup
NR_149163.1:n.2308+3251_2308+3264dup
NM_001193376.2:c.2287-3110_2287-3097dup	NP_001180305.1:n.2287-3110_2287-3097dup
NM_198253.3:c.2287-3110_2287-3097dup MANE Select	NP_937983.2:n.2287-3110_2287-3097dup
NR_149162.2:n.2365+3251_2365+3264dup
NR_149163.2:n.2329+3251_2329+3264dup
NM_001193376.3:c.2287-3110_2287-3097dup	NP_001180305.1:n.2287-3110_2287-3097dup
NR_149162.3:n.2365+3251_2365+3264dup
NR_149163.3:n.2329+3251_2329+3264dup