Canonical Allele Identifier: CA557564646

Gene: TERT

Linked Data

• dbSNP Id: rs1300486019
• gnomAD v2: 5-1260504-C-CAT
• gnomAD v3: 5-1260389-C-CAT
• gnomAD v4: 5-1260389-C-CAT
• MyVariant Identifiers: chr5:g.1260504_1260505insAT (hg19) ; chr5:g.1260389_1260390insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1260390_1260391insTA , CM000667.2:g.1260390_1260391insTA	GRCh38
NC_000005.9:g.1260505_1260506insTA , CM000667.1:g.1260505_1260506insTA	GRCh37
NC_000005.8:g.1313505_1313506insTA	NCBI36
NG_009265.1:g.39658_39659insAT , LRG_343:g.39658_39659insAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2970+84_2970+85insAT MANE Select	ENSP00000309572.5:n.2970+84_2970+85insAT
ENST00000656021.1:c.*2516+84_*2516+85insAT	ENSP00000499759.1:n.*2516+84_*2516+85insA...
ENST00000667927.1:n.258+84_258+85insAT
ENST00000310581.9:c.2970+84_2970+85insAT	ENSP00000309572.5:n.2970+84_2970+85insAT
ENST00000334602.10:c.2781+84_2781+85insAT	ENSP00000334346.6:n.2781+84_2781+85insAT
ENST00000460137.6:c.2563+84_2563+85insAT	ENSP00000425003.1:n.2563+84_2563+85insAT
ENST00000484238.6:n.1412+84_1412+85insAT
NM_001193376.1:c.2781+84_2781+85insAT	NP_001180305.1:n.2781+84_2781+85insAT
NM_198253.2:c.2970+84_2970+85insAT , LRG_343t1:c.2970+84_2970+85insAT	NP_937983.2:n.2970+84_2970+85insAT
XM_011514104.1:c.1440+84_1440+85insAT	XP_011512406.1:n.1440+84_1440+85insAT
XM_011514105.1:c.1326+84_1326+85insAT	XP_011512407.1:n.1326+84_1326+85insAT
XM_011514106.1:c.1326+84_1326+85insAT	XP_011512408.1:n.1326+84_1326+85insAT
NR_149162.1:n.2657+84_2657+85insAT
NR_149163.1:n.2621+84_2621+85insAT
NM_001193376.2:c.2781+84_2781+85insAT	NP_001180305.1:n.2781+84_2781+85insAT
NM_198253.3:c.2970+84_2970+85insAT MANE Select	NP_937983.2:n.2970+84_2970+85insAT
NR_149162.2:n.2678+84_2678+85insAT
NR_149163.2:n.2642+84_2642+85insAT
NM_001193376.3:c.2781+84_2781+85insAT	NP_001180305.1:n.2781+84_2781+85insAT
NR_149162.3:n.2678+84_2678+85insAT
NR_149163.3:n.2642+84_2642+85insAT