Canonical Allele Identifier: CA2673079133

Gene: TERT

Linked Data

• gnomAD v4: 5-1272283-G-GGACCACGGCATACCGACGCACGCAGTACGTGTTCTGGGGTTTGATGATGCTGGCGATGACCTCCGTGAGCCTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1272283_1272284insGACCACGGCATACCGACGCACGCAGTACGTGTTCTGGGGTTTGATGATGCTGGCGATGACCTCCGTGAGCCTGT , CM000667.2:g.1272283_1272284insGACCACGGCATACCGACGCACGCAGTACGTGTTCTGGGGTTTGATGATGCTGGCGATGACCTCCGTGAGCCTGT	GRCh38
NC_000005.9:g.1272398_1272399insGACCACGGCATACCGACGCACGCAGTACGTGTTCTGGGGTTTGATGATGCTGGCGATGACCTCCGTGAGCCTGT , CM000667.1:g.1272398_1272399insGACCACGGCATACCGACGCACGCAGTACGTGTTCTGGGGTTTGATGATGCTGGCGATGACCTCCGTGAGCCTGT	GRCh37
NC_000005.8:g.1325398_1325399insGACCACGGCATACCGACGCACGCAGTACGTGTTCTGGGGTTTGATGATGCTGGCGATGACCTCCGTGAGCCTGT	NCBI36
NG_009265.1:g.27764_27765insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC , LRG_343:g.27764_27765insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2287-4_2287-3insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC MANE Select	ENSP00000309572.5:n.2287-4_2287-3insACAGGCTCACGGAGGTCATCGCCAG...
ENST00000656021.1:c.*1833-4_*1833-3insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC	ENSP00000499759.1:n.*1833-4_*1833-3insACAGGCTCACGGAGGTCATCGCC...
ENST00000310581.9:c.2287-4_2287-3insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC	ENSP00000309572.5:n.2287-4_2287-3insACAGGCTCACGGAGGTCATCGCCAG...
ENST00000334602.10:c.2287-4_2287-3insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC	ENSP00000334346.6:n.2287-4_2287-3insACAGGCTCACGGAGGTCATCGCCAG...
ENST00000460137.6:c.2251-3651_2251-3650insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC	ENSP00000425003.1:n.2251-3651_2251-3650insACAGGCTCACGGAGGTCAT...
ENST00000484238.6:n.1100-3651_1100-3650insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC
ENST00000508104.2:c.2287-3651_2287-3650insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC	ENSP00000426042.2:n.2287-3651_2287-3650insACAGGCTCACGGAGGTCAT...
NM_001193376.1:c.2287-4_2287-3insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC	NP_001180305.1:n.2287-4_2287-3insACAGGCTCACGGAGGTCATCGCCAGCAT...
NM_198253.2:c.2287-4_2287-3insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC , LRG_343t1:c.2287-4_2287-3insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC	NP_937983.2:n.2287-4_2287-3insACAGGCTCACGGAGGTCATCGCCAGCATCAT...
XM_011514104.1:c.757-4_757-3insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC	XP_011512406.1:n.757-4_757-3insACAGGCTCACGGAGGTCATCGCCAGCATCA...
XM_011514105.1:c.643-4_643-3insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC	XP_011512407.1:n.643-4_643-3insACAGGCTCACGGAGGTCATCGCCAGCATCA...
XM_011514106.1:c.643-4_643-3insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC	XP_011512408.1:n.643-4_643-3insACAGGCTCACGGAGGTCATCGCCAGCATCA...
NR_149162.1:n.2345-3651_2345-3650insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC
NR_149163.1:n.2309-3651_2309-3650insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC
NM_001193376.2:c.2287-4_2287-3insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC	NP_001180305.1:n.2287-4_2287-3insACAGGCTCACGGAGGTCATCGCCAGCAT...
NM_198253.3:c.2287-4_2287-3insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC MANE Select	NP_937983.2:n.2287-4_2287-3insACAGGCTCACGGAGGTCATCGCCAGCATCAT...
NR_149162.2:n.2366-3651_2366-3650insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC
NR_149163.2:n.2330-3651_2330-3650insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC
NM_001193376.3:c.2287-4_2287-3insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC	NP_001180305.1:n.2287-4_2287-3insACAGGCTCACGGAGGTCATCGCCAGCAT...
NR_149162.3:n.2366-3651_2366-3650insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC
NR_149163.3:n.2330-3651_2330-3650insACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCCCAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTC