Canonical Allele Identifier: CA803450956

Gene: TERT

Linked Data

• dbSNP Id: rs1298456700
• gnomAD v3: 5-1266211-TCAC-T
• gnomAD v4: 5-1266211-TCAC-T
• MyVariant Identifiers: chr5:g.1266327_1266329del (hg19) ; chr5:g.1266212_1266214del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1266215_1266217del , CM000667.2:g.1266215_1266217del	GRCh38
NC_000005.9:g.1266330_1266332del , CM000667.1:g.1266330_1266332del	GRCh37
NC_000005.8:g.1319330_1319332del	NCBI36
NG_009265.1:g.33834_33836del , LRG_343:g.33834_33836del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2654+250_2654+252del MANE Select	ENSP00000309572.5:n.2654+250_2654+252del
ENST00000656021.1:c.*2200+250_*2200+252del	ENSP00000499759.1:n.*2200+250_*2200+252del
ENST00000310581.9:c.2654+250_2654+252del	ENSP00000309572.5:n.2654+250_2654+252del
ENST00000334602.10:c.2654+250_2654+252del	ENSP00000334346.6:n.2654+250_2654+252del
ENST00000460137.6:c.2436+250_2436+252del	ENSP00000425003.1:n.2436+250_2436+252del
ENST00000484238.6:n.1285+250_1285+252del
ENST00000503656.1:n.61+250_61+252del
NM_001193376.1:c.2654+250_2654+252del	NP_001180305.1:n.2654+250_2654+252del
NM_198253.2:c.2654+250_2654+252del , LRG_343t1:c.2654+250_2654+252del	NP_937983.2:n.2654+250_2654+252del
XM_011514104.1:c.1124+250_1124+252del	XP_011512406.1:n.1124+250_1124+252del
XM_011514105.1:c.1010+250_1010+252del	XP_011512407.1:n.1010+250_1010+252del
XM_011514106.1:c.1010+250_1010+252del	XP_011512408.1:n.1010+250_1010+252del
NR_149162.1:n.2530+250_2530+252del
NR_149163.1:n.2494+250_2494+252del
NM_001193376.2:c.2654+250_2654+252del	NP_001180305.1:n.2654+250_2654+252del
NM_198253.3:c.2654+250_2654+252del MANE Select	NP_937983.2:n.2654+250_2654+252del
NR_149162.2:n.2551+250_2551+252del
NR_149163.2:n.2515+250_2515+252del
NM_001193376.3:c.2654+250_2654+252del	NP_001180305.1:n.2654+250_2654+252del
NR_149162.3:n.2551+250_2551+252del
NR_149163.3:n.2515+250_2515+252del