Canonical Allele Identifier: CA557569984

Gene: TERT

Linked Data

• dbSNP Id: rs1205748798
• gnomAD v2: 5-1279833-TCACCGCAGC-T
• gnomAD v3: 5-1279718-TCACCGCAGC-T
• gnomAD v4: 5-1279718-TCACCGCAGC-T
• MyVariant Identifiers: chr5:g.1279834_1279842del (hg19) ; chr5:g.1279719_1279727del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1279731_1279739del , CM000667.2:g.1279731_1279739del	GRCh38
NC_000005.9:g.1279846_1279854del , CM000667.1:g.1279846_1279854del	GRCh37
NC_000005.8:g.1332846_1332854del	NCBI36
NG_009265.1:g.20321_20329del , LRG_343:g.20321_20329del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.1951-257_1951-249del MANE Select	ENSP00000309572.5:n.1951-257_1951-249del
ENST00000656021.1:c.*1497-257_*1497-249del	ENSP00000499759.1:n.*1497-257_*1497-249del
ENST00000310581.9:c.1951-257_1951-249del	ENSP00000309572.5:n.1951-257_1951-249del
ENST00000334602.10:c.1951-257_1951-249del	ENSP00000334346.6:n.1951-257_1951-249del
ENST00000460137.6:c.1951-257_1951-249del	ENSP00000425003.1:n.1951-257_1951-249del
ENST00000484238.6:n.764-257_764-249del
ENST00000508104.2:c.1951-257_1951-249del	ENSP00000426042.2:n.1951-257_1951-249del
NM_001193376.1:c.1951-257_1951-249del	NP_001180305.1:n.1951-257_1951-249del
NM_198253.2:c.1951-257_1951-249del , LRG_343t1:c.1951-257_1951-249del	NP_937983.2:n.1951-257_1951-249del
XM_011514104.1:c.421-257_421-249del	XP_011512406.1:n.421-257_421-249del
XM_011514105.1:c.307-257_307-249del	XP_011512407.1:n.307-257_307-249del
XM_011514106.1:c.307-257_307-249del	XP_011512408.1:n.307-257_307-249del
NR_149162.1:n.2009-257_2009-249del
NR_149163.1:n.2009-257_2009-249del
NM_001193376.2:c.1951-257_1951-249del	NP_001180305.1:n.1951-257_1951-249del
NM_198253.3:c.1951-257_1951-249del MANE Select	NP_937983.2:n.1951-257_1951-249del
NR_149162.2:n.2030-257_2030-249del
NR_149163.2:n.2030-257_2030-249del
NM_001193376.3:c.1951-257_1951-249del	NP_001180305.1:n.1951-257_1951-249del
NR_149162.3:n.2030-257_2030-249del
NR_149163.3:n.2030-257_2030-249del