Canonical Allele Identifier: CA2684108711

Gene: TFR2

Linked Data

• gnomAD v4: 7-100632738-CTTTTTTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100632751_100632759del , CM000669.2:g.100632751_100632759del	GRCh38
NC_000007.13:g.100230374_100230382del , CM000669.1:g.100230374_100230382del	GRCh37
NC_000007.12:g.100068310_100068318del	NCBI36
NG_007989.1:g.13804_13812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.849+254_849+262del MANE Select	ENSP00000223051.3:n.849+254_849+262del
ENST00000223051.7:c.849+254_849+262del	ENSP00000223051.3:n.849+254_849+262del
ENST00000431692.5:c.849+254_849+262del	ENSP00000413905.1:n.849+254_849+262del
ENST00000462090.5:n.90+254_90+262del
ENST00000462107.1:c.849+254_849+262del	ENSP00000420525.1:n.849+254_849+262del
ENST00000465294.5:n.854+254_854+262del
ENST00000473374.5:n.299+254_299+262del
ENST00000473571.1:n.303+254_303+262del
ENST00000476304.5:n.470+254_470+262del
ENST00000490084.5:c.104+254_104+262del
NM_001206855.1:c.336+254_336+262del	NP_001193784.1:n.336+254_336+262del
NM_003227.3:c.849+254_849+262del	NP_003218.2:n.849+254_849+262del
XM_005250553.3:c.849+254_849+262del	XP_005250610.1:n.849+254_849+262del
XM_005250554.3:c.849+254_849+262del	XP_005250611.1:n.849+254_849+262del
XR_927814.1:n.504-172_504-164del
NM_001206855.2:c.336+254_336+262del	NP_001193784.1:n.336+254_336+262del
XM_005250553.4:c.849+254_849+262del	XP_005250610.1:n.849+254_849+262del
XM_017012573.1:c.849+254_849+262del	XP_016868062.1:n.849+254_849+262del
NM_003227.4:c.849+254_849+262del MANE Select	NP_003218.2:n.849+254_849+262del
NM_001206855.3:c.336+254_336+262del	NP_001193784.1:n.336+254_336+262del