Canonical Allele Identifier: CA2684106296

Gene: TFR2

Linked Data

• gnomAD v4: 7-100626568-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626570_100626571del , CM000669.2:g.100626570_100626571del	GRCh38
NC_000007.13:g.100224193_100224194del , CM000669.1:g.100224193_100224194del	GRCh37
NC_000007.12:g.100062129_100062130del	NCBI36
NG_007989.1:g.19981_19982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2136+193_2136+194del MANE Select	ENSP00000223051.3:n.2136+193_2136+194del
ENST00000223051.7:c.2136+193_2136+194del	ENSP00000223051.3:n.2136+193_2136+194del
ENST00000431692.5:c.*811+193_*811+194del	ENSP00000413905.1:n.*811+193_*811+194del
ENST00000461176.1:n.675_676del
ENST00000462090.5:n.1172+193_1172+194del
ENST00000462107.1:c.2136+193_2136+194del	ENSP00000420525.1:n.2136+193_2136+194del
ENST00000465294.5:n.2056+193_2056+194del
ENST00000476304.5:n.1757+193_1757+194del
ENST00000490084.5:c.1489+193_1489+194del
NM_001206855.1:c.1623+193_1623+194del	NP_001193784.1:n.1623+193_1623+194del
NM_003227.3:c.2136+193_2136+194del	NP_003218.2:n.2136+193_2136+194del
XM_005250553.3:c.2136+193_2136+194del	XP_005250610.1:n.2136+193_2136+194del
XM_005250554.3:c.2190_2191del	XP_005250611.1:p.Ser731Ter
XR_927814.1:n.433+4016_433+4017del
NM_001206855.2:c.1623+193_1623+194del	NP_001193784.1:n.1623+193_1623+194del
XM_005250553.4:c.2136+193_2136+194del	XP_005250610.1:n.2136+193_2136+194del
XM_017012573.1:c.2136+193_2136+194del	XP_016868062.1:n.2136+193_2136+194del
NM_003227.4:c.2136+193_2136+194del MANE Select	NP_003218.2:n.2136+193_2136+194del
NM_001206855.3:c.1623+193_1623+194del	NP_001193784.1:n.1623+193_1623+194del