Canonical Allele Identifier: CA803362188

Gene: TERT

Linked Data

• dbSNP Id: rs1322234631
• gnomAD v3: 5-1260321-CATGT-C
• gnomAD v4: 5-1260321-CATGT-C
• MyVariant Identifiers: chr5:g.1260437_1260440del (hg19) ; chr5:g.1260322_1260325del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1260326_1260329del , CM000667.2:g.1260326_1260329del	GRCh38
NC_000005.9:g.1260441_1260444del , CM000667.1:g.1260441_1260444del	GRCh37
NC_000005.8:g.1313441_1313444del	NCBI36
NG_009265.1:g.39723_39726del , LRG_343:g.39723_39726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2970+149_2970+152del MANE Select	ENSP00000309572.5:n.2970+149_2970+152del
ENST00000656021.1:c.*2516+149_*2516+152del	ENSP00000499759.1:n.*2516+149_*2516+152del
ENST00000667927.1:n.258+149_258+152del
ENST00000310581.9:c.2970+149_2970+152del	ENSP00000309572.5:n.2970+149_2970+152del
ENST00000334602.10:c.2781+149_2781+152del	ENSP00000334346.6:n.2781+149_2781+152del
ENST00000460137.6:c.2563+149_2563+152del	ENSP00000425003.1:n.2563+149_2563+152del
ENST00000484238.6:n.1412+149_1412+152del
NM_001193376.1:c.2781+149_2781+152del	NP_001180305.1:n.2781+149_2781+152del
NM_198253.2:c.2970+149_2970+152del , LRG_343t1:c.2970+149_2970+152del	NP_937983.2:n.2970+149_2970+152del
XM_011514104.1:c.1440+149_1440+152del	XP_011512406.1:n.1440+149_1440+152del
XM_011514105.1:c.1326+149_1326+152del	XP_011512407.1:n.1326+149_1326+152del
XM_011514106.1:c.1326+149_1326+152del	XP_011512408.1:n.1326+149_1326+152del
NR_149162.1:n.2657+149_2657+152del
NR_149163.1:n.2621+149_2621+152del
NM_001193376.2:c.2781+149_2781+152del	NP_001180305.1:n.2781+149_2781+152del
NM_198253.3:c.2970+149_2970+152del MANE Select	NP_937983.2:n.2970+149_2970+152del
NR_149162.2:n.2678+149_2678+152del
NR_149163.2:n.2642+149_2642+152del
NM_001193376.3:c.2781+149_2781+152del	NP_001180305.1:n.2781+149_2781+152del
NR_149162.3:n.2678+149_2678+152del
NR_149163.3:n.2642+149_2642+152del