Canonical Allele Identifier: CA3184540

Gene: TERT

Linked Data

• dbSNP Id: rs778821478
• ExAC: 5:1272262 GGGAGTCCGT / G
• MyVariant Identifiers: chr5:g.1272263_1272271del (hg19) ; chr5:g.1272148_1272156del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1272149_1272157del , CM000667.2:g.1272149_1272157del	GRCh38
NC_000005.9:g.1272264_1272272del , CM000667.1:g.1272264_1272272del	GRCh37
NC_000005.8:g.1325264_1325272del	NCBI36
NG_009265.1:g.27892_27900del , LRG_343:g.27892_27900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2382+29_2382+37del MANE Select	ENSP00000309572.5:n.2382+29_2382+37del
ENST00000656021.1:c.*1928+29_*1928+37del	ENSP00000499759.1:n.*1928+29_*1928+37del
ENST00000310581.9:c.2382+29_2382+37del	ENSP00000309572.5:n.2382+29_2382+37del
ENST00000334602.10:c.2382+29_2382+37del	ENSP00000334346.6:n.2382+29_2382+37del
ENST00000460137.6:c.2251-3523_2251-3515del	ENSP00000425003.1:n.2251-3523_2251-3515del
ENST00000484238.6:n.1100-3523_1100-3515del
ENST00000508104.2:c.2287-3523_2287-3515del	ENSP00000426042.2:n.2287-3523_2287-3515del
NM_001193376.1:c.2382+29_2382+37del	NP_001180305.1:n.2382+29_2382+37del
NM_198253.2:c.2382+29_2382+37del , LRG_343t1:c.2382+29_2382+37del	NP_937983.2:n.2382+29_2382+37del
XM_011514104.1:c.852+29_852+37del	XP_011512406.1:n.852+29_852+37del
XM_011514105.1:c.738+29_738+37del	XP_011512407.1:n.738+29_738+37del
XM_011514106.1:c.738+29_738+37del	XP_011512408.1:n.738+29_738+37del
NR_149162.1:n.2345-3523_2345-3515del
NR_149163.1:n.2309-3523_2309-3515del
NM_001193376.2:c.2382+29_2382+37del	NP_001180305.1:n.2382+29_2382+37del
NM_198253.3:c.2382+29_2382+37del MANE Select	NP_937983.2:n.2382+29_2382+37del
NR_149162.2:n.2366-3523_2366-3515del
NR_149163.2:n.2330-3523_2330-3515del
NM_001193376.3:c.2382+29_2382+37del	NP_001180305.1:n.2382+29_2382+37del
NR_149162.3:n.2366-3523_2366-3515del
NR_149163.3:n.2330-3523_2330-3515del