Canonical Allele Identifier: CA2777154788

Gene: TFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633035_100633036insCCAAAACCAAACACAC , CM000669.2:g.100633035_100633036insCCAAAACCAAACACAC	GRCh38
NC_000007.13:g.100230658_100230659insCCAAAACCAAACACAC , CM000669.1:g.100230658_100230659insCCAAAACCAAACACAC	GRCh37
NC_000007.12:g.100068594_100068595insCCAAAACCAAACACAC	NCBI36
NG_007989.1:g.13515_13516insGTGTGTTTGGTTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.814_815insGTGTGTTTGGTTTTGG MANE Select	ENSP00000223051.3:p.Leu272ArgfsTer?
ENST00000223051.7:c.814_815insGTGTGTTTGGTTTTGG	ENSP00000223051.3:p.Leu272ArgfsTer?
ENST00000431692.5:c.814_815insGTGTGTTTGGTTTTGG	ENSP00000413905.1:p.Leu272ArgfsTer34
ENST00000462090.5:n.55_56insGTGTGTTTGGTTTTGG
ENST00000462107.1:c.814_815insGTGTGTTTGGTTTTGG	ENSP00000420525.1:p.Leu272ArgfsTer?
ENST00000465294.5:n.819_820insGTGTGTTTGGTTTTGG
ENST00000473374.5:n.264_265insGTGTGTTTGGTTTTGG
ENST00000473571.1:n.268_269insGTGTGTTTGGTTTTGG
ENST00000475011.1:n.343_344insGTGTGTTTGGTTTTGG
ENST00000476304.5:n.435_436insGTGTGTTTGGTTTTGG
ENST00000490084.5:c.69_70insGTGTGTTTGGTTTTGG
NM_001206855.1:c.301_302insGTGTGTTTGGTTTTGG	NP_001193784.1:p.Leu101ArgfsTer?
NM_003227.3:c.814_815insGTGTGTTTGGTTTTGG	NP_003218.2:p.Leu272ArgfsTer?
XM_005250553.3:c.814_815insGTGTGTTTGGTTTTGG	XP_005250610.1:p.Leu272ArgfsTer?
XM_005250554.3:c.814_815insGTGTGTTTGGTTTTGG	XP_005250611.1:p.Leu272ArgfsTer?
NM_001206855.2:c.301_302insGTGTGTTTGGTTTTGG	NP_001193784.1:p.Leu101ArgfsTer?
XM_005250553.4:c.814_815insGTGTGTTTGGTTTTGG	XP_005250610.1:p.Leu272ArgfsTer?
XM_017012573.1:c.814_815insGTGTGTTTGGTTTTGG	XP_016868062.1:p.Leu272ArgfsTer?
NM_003227.4:c.814_815insGTGTGTTTGGTTTTGG MANE Select	NP_003218.2:p.Leu272ArgfsTer?
NM_001206855.3:c.301_302insGTGTGTTTGGTTTTGG	NP_001193784.1:p.Leu101ArgfsTer?