Canonical Allele Identifier: CA2684106885

Gene: TFR2

Linked Data

• gnomAD v4: 7-100627613-AAAGGCCGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627618_100627626del , CM000669.2:g.100627618_100627626del	GRCh38
NC_000007.13:g.100225241_100225249del , CM000669.1:g.100225241_100225249del	GRCh37
NC_000007.12:g.100063177_100063185del	NCBI36
NG_007989.1:g.18929_18937del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1722_1730del MANE Select	ENSP00000223051.3:p.Thr575_Phe577del
ENST00000223051.7:c.1722_1730del	ENSP00000223051.3:p.Thr575_Phe577del
ENST00000431692.5:c.*397_*405del	ENSP00000413905.1:n.*397_*405del
ENST00000462090.5:n.673_681del
ENST00000462107.1:c.1722_1730del	ENSP00000420525.1:p.Thr575_Phe577del
ENST00000465294.5:n.1557_1565del
ENST00000473374.5:n.795_803del
ENST00000473963.1:n.751_759del
ENST00000476304.5:n.1343_1351del
ENST00000490084.5:c.1075_1083del
NM_001206855.1:c.1209_1217del	NP_001193784.1:p.Thr404_Phe406del
NM_003227.3:c.1722_1730del	NP_003218.2:p.Thr575_Phe577del
XM_005250553.3:c.1722_1730del	XP_005250610.1:p.Thr575_Phe577del
XM_005250554.3:c.1722_1730del	XP_005250611.1:p.Thr575_Phe577del
XR_927814.1:n.434-3538_434-3530del
NM_001206855.2:c.1209_1217del	NP_001193784.1:p.Thr404_Phe406del
XM_005250553.4:c.1722_1730del	XP_005250610.1:p.Thr575_Phe577del
XM_017012573.1:c.1722_1730del	XP_016868062.1:p.Thr575_Phe577del
NM_003227.4:c.1722_1730del MANE Select	NP_003218.2:p.Thr575_Phe577del
NM_001206855.3:c.1209_1217del	NP_001193784.1:p.Thr404_Phe406del