Canonical Allele Identifier: CA2684109436

Gene: TFR2

Linked Data

• gnomAD v4: 7-100633177-AGGAAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633180_100633185del , CM000669.2:g.100633180_100633185del	GRCh38
NC_000007.13:g.100230803_100230808del , CM000669.1:g.100230803_100230808del	GRCh37
NC_000007.12:g.100068739_100068744del	NCBI36
NG_007989.1:g.13368_13373del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.726+46_726+51del MANE Select	ENSP00000223051.3:n.726+46_726+51del
ENST00000223051.7:c.726+46_726+51del	ENSP00000223051.3:n.726+46_726+51del
ENST00000431692.5:c.726+46_726+51del	ENSP00000413905.1:n.726+46_726+51del
ENST00000462107.1:c.726+46_726+51del	ENSP00000420525.1:n.726+46_726+51del
ENST00000465294.5:n.731+46_731+51del
ENST00000473374.5:n.176+46_176+51del
ENST00000473571.1:n.180+46_180+51del
ENST00000475011.1:n.255+46_255+51del
ENST00000476304.5:n.347+46_347+51del
NM_001206855.1:c.213+46_213+51del	NP_001193784.1:n.213+46_213+51del
NM_003227.3:c.726+46_726+51del	NP_003218.2:n.726+46_726+51del
XM_005250553.3:c.726+46_726+51del	XP_005250610.1:n.726+46_726+51del
XM_005250554.3:c.726+46_726+51del	XP_005250611.1:n.726+46_726+51del
NM_001206855.2:c.213+46_213+51del	NP_001193784.1:n.213+46_213+51del
XM_005250553.4:c.726+46_726+51del	XP_005250610.1:n.726+46_726+51del
XM_017012573.1:c.726+46_726+51del	XP_016868062.1:n.726+46_726+51del
NM_003227.4:c.726+46_726+51del MANE Select	NP_003218.2:n.726+46_726+51del
NM_001206855.3:c.213+46_213+51del	NP_001193784.1:n.213+46_213+51del