Canonical Allele Identifier: CA2684106474

Gene: TFR2

Linked Data

• gnomAD v4: 7-100626738-C-CACAGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626738_100626739insACAGGGGGGGG , CM000669.2:g.100626738_100626739insACAGGGGGGGG	GRCh38
NC_000007.13:g.100224361_100224362insACAGGGGGGGG , CM000669.1:g.100224361_100224362insACAGGGGGGGG	GRCh37
NC_000007.12:g.100062297_100062298insACAGGGGGGGG	NCBI36
NG_007989.1:g.19812_19813insCCCCCCCCTGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2136+24_2136+25insCCCCCCCCTGT MANE Select	ENSP00000223051.3:n.2136+24_2136+25insCCC...
ENST00000223051.7:c.2136+24_2136+25insCCCCCCCCTGT	ENSP00000223051.3:n.2136+24_2136+25insCCC...
ENST00000431692.5:c.*811+24_*811+25insCCCCCCCCTGT	ENSP00000413905.1:n.*811+24_*811+25insCCC...
ENST00000461176.1:n.506_507insCCCCCCCCTGT
ENST00000462090.5:n.1172+24_1172+25insCCCCCCCCTGT
ENST00000462107.1:c.2136+24_2136+25insCCCCCCCCTGT	ENSP00000420525.1:n.2136+24_2136+25insCCC...
ENST00000465294.5:n.2056+24_2056+25insCCCCCCCCTGT
ENST00000476304.5:n.1757+24_1757+25insCCCCCCCCTGT
ENST00000490084.5:c.1489+24_1489+25insCCCCCCCCTGT
NM_001206855.1:c.1623+24_1623+25insCCCCCCCCTGT	NP_001193784.1:n.1623+24_1623+25insCCCCCC...
NM_003227.3:c.2136+24_2136+25insCCCCCCCCTGT	NP_003218.2:n.2136+24_2136+25insCCCCCCCCT...
XM_005250553.3:c.2136+24_2136+25insCCCCCCCCTGT	XP_005250610.1:n.2136+24_2136+25insCCCCCC...
XM_005250554.3:c.2136+24_2136+25insCCCCCCCCTGT	XP_005250611.1:n.2136+24_2136+25insCCCCCC...
XR_927814.1:n.433+4184_433+4185insACAGGGGGGGG
NM_001206855.2:c.1623+24_1623+25insCCCCCCCCTGT	NP_001193784.1:n.1623+24_1623+25insCCCCCC...
XM_005250553.4:c.2136+24_2136+25insCCCCCCCCTGT	XP_005250610.1:n.2136+24_2136+25insCCCCCC...
XM_017012573.1:c.2136+24_2136+25insCCCCCCCCTGT	XP_016868062.1:n.2136+24_2136+25insCCCCCC...
NM_003227.4:c.2136+24_2136+25insCCCCCCCCTGT MANE Select	NP_003218.2:n.2136+24_2136+25insCCCCCCCCT...
NM_001206855.3:c.1623+24_1623+25insCCCCCCCCTGT	NP_001193784.1:n.1623+24_1623+25insCCCCCC...