Canonical Allele Identifier: CA2684105893

Gene: TFR2

Linked Data

• gnomAD v4: 7-100620733-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620734_100620735del , CM000669.2:g.100620734_100620735del	GRCh38
NC_000007.13:g.100218357_100218358del , CM000669.1:g.100218357_100218358del	GRCh37
NC_000007.12:g.100056293_100056294del	NCBI36
NG_007989.1:g.25816_25817del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.*122_*123del MANE Select	ENSP00000223051.3:n.*122_*123del
ENST00000223051.7:c.*122_*123del	ENSP00000223051.3:n.*122_*123del
ENST00000431692.5:c.*1203_*1204del	ENSP00000413905.1:n.*1203_*1204del
ENST00000462090.5:n.1564_1565del
ENST00000462107.1:c.*122_*123del	ENSP00000420525.1:n.*122_*123del
ENST00000465294.5:n.2448_2449del
ENST00000476304.5:n.2149_2150del
ENST00000490084.5:c.1881_1882del
NM_001206855.1:c.*122_*123del	NP_001193784.1:n.*122_*123del
NM_003227.3:c.*122_*123del	NP_003218.2:n.*122_*123del
XM_005250553.3:c.*122_*123del	XP_005250610.1:n.*122_*123del
NM_001206855.2:c.*122_*123del	NP_001193784.1:n.*122_*123del
XM_005250553.4:c.*122_*123del	XP_005250610.1:n.*122_*123del
XM_017012573.1:c.*122_*123del	XP_016868062.1:n.*122_*123del
NM_003227.4:c.*122_*123del MANE Select	NP_003218.2:n.*122_*123del
NM_001206855.3:c.*122_*123del	NP_001193784.1:n.*122_*123del