Canonical Allele Identifier: CA2684106675

Gene: TFR2

Linked Data

• gnomAD v4: 7-100627032-ACG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627033_100627034del , CM000669.2:g.100627033_100627034del	GRCh38
NC_000007.13:g.100224656_100224657del , CM000669.1:g.100224656_100224657del	GRCh37
NC_000007.12:g.100062592_100062593del	NCBI36
NG_007989.1:g.19517_19518del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1996-131_1996-130del MANE Select	ENSP00000223051.3:n.1996-131_1996-130del
ENST00000223051.7:c.1996-131_1996-130del	ENSP00000223051.3:n.1996-131_1996-130del
ENST00000431692.5:c.*671-131_*671-130del	ENSP00000413905.1:n.*671-131_*671-130del
ENST00000461176.1:n.342-131_342-130del
ENST00000462090.5:n.1032-131_1032-130del
ENST00000462107.1:c.1996-131_1996-130del	ENSP00000420525.1:n.1996-131_1996-130del
ENST00000465294.5:n.1916-131_1916-130del
ENST00000476304.5:n.1617-131_1617-130del
ENST00000490084.5:c.1349-131_1349-130del
NM_001206855.1:c.1483-131_1483-130del	NP_001193784.1:n.1483-131_1483-130del
NM_003227.3:c.1996-131_1996-130del	NP_003218.2:n.1996-131_1996-130del
XM_005250553.3:c.1996-131_1996-130del	XP_005250610.1:n.1996-131_1996-130del
XM_005250554.3:c.1996-131_1996-130del	XP_005250611.1:n.1996-131_1996-130del
XR_927814.1:n.434-4123_434-4122del
NM_001206855.2:c.1483-131_1483-130del	NP_001193784.1:n.1483-131_1483-130del
XM_005250553.4:c.1996-131_1996-130del	XP_005250610.1:n.1996-131_1996-130del
XM_017012573.1:c.1996-131_1996-130del	XP_016868062.1:n.1996-131_1996-130del
NM_003227.4:c.1996-131_1996-130del MANE Select	NP_003218.2:n.1996-131_1996-130del
NM_001206855.3:c.1483-131_1483-130del	NP_001193784.1:n.1483-131_1483-130del