Canonical Allele Identifier: CA2777154708

Gene: TFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100632759_100632762del , CM000669.2:g.100632759_100632762del	GRCh38
NC_000007.13:g.100230382_100230385del , CM000669.1:g.100230382_100230385del	GRCh37
NC_000007.12:g.100068318_100068321del	NCBI36
NG_007989.1:g.13790_13793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.849+240_849+243del MANE Select	ENSP00000223051.3:n.849+240_849+243del
ENST00000223051.7:c.849+240_849+243del	ENSP00000223051.3:n.849+240_849+243del
ENST00000431692.5:c.849+240_849+243del	ENSP00000413905.1:n.849+240_849+243del
ENST00000462090.5:n.90+240_90+243del
ENST00000462107.1:c.849+240_849+243del	ENSP00000420525.1:n.849+240_849+243del
ENST00000465294.5:n.854+240_854+243del
ENST00000473374.5:n.299+240_299+243del
ENST00000473571.1:n.303+240_303+243del
ENST00000476304.5:n.470+240_470+243del
ENST00000490084.5:c.104+240_104+243del
NM_001206855.1:c.336+240_336+243del	NP_001193784.1:n.336+240_336+243del
NM_003227.3:c.849+240_849+243del	NP_003218.2:n.849+240_849+243del
XM_005250553.3:c.849+240_849+243del	XP_005250610.1:n.849+240_849+243del
XM_005250554.3:c.849+240_849+243del	XP_005250611.1:n.849+240_849+243del
XR_927814.1:n.504-164_504-161del
NM_001206855.2:c.336+240_336+243del	NP_001193784.1:n.336+240_336+243del
XM_005250553.4:c.849+240_849+243del	XP_005250610.1:n.849+240_849+243del
XM_017012573.1:c.849+240_849+243del	XP_016868062.1:n.849+240_849+243del
NM_003227.4:c.849+240_849+243del MANE Select	NP_003218.2:n.849+240_849+243del
NM_001206855.3:c.336+240_336+243del	NP_001193784.1:n.336+240_336+243del