Canonical Allele Identifier: CA1105041605

Gene: TFR2

Linked Data

• gnomAD v3: 7-100633159-GTCCCTCCTTCGA-G
• gnomAD v4: 7-100633159-GTCCCTCCTTCGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633160_100633171del , CM000669.2:g.100633160_100633171del	GRCh38
NC_000007.13:g.100230783_100230794del , CM000669.1:g.100230783_100230794del	GRCh37
NC_000007.12:g.100068719_100068730del	NCBI36
NG_007989.1:g.13380_13391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.727-48_727-37del MANE Select	ENSP00000223051.3:n.727-48_727-37del
ENST00000223051.7:c.727-48_727-37del	ENSP00000223051.3:n.727-48_727-37del
ENST00000431692.5:c.727-48_727-37del	ENSP00000413905.1:n.727-48_727-37del
ENST00000462107.1:c.727-48_727-37del	ENSP00000420525.1:n.727-48_727-37del
ENST00000465294.5:n.732-48_732-37del
ENST00000473374.5:n.177-48_177-37del
ENST00000473571.1:n.181-48_181-37del
ENST00000475011.1:n.256-48_256-37del
ENST00000476304.5:n.348-48_348-37del
NM_001206855.1:c.214-48_214-37del	NP_001193784.1:n.214-48_214-37del
NM_003227.3:c.727-48_727-37del	NP_003218.2:n.727-48_727-37del
XM_005250553.3:c.727-48_727-37del	XP_005250610.1:n.727-48_727-37del
XM_005250554.3:c.727-48_727-37del	XP_005250611.1:n.727-48_727-37del
NM_001206855.2:c.214-48_214-37del	NP_001193784.1:n.214-48_214-37del
XM_005250553.4:c.727-48_727-37del	XP_005250610.1:n.727-48_727-37del
XM_017012573.1:c.727-48_727-37del	XP_016868062.1:n.727-48_727-37del
NM_003227.4:c.727-48_727-37del MANE Select	NP_003218.2:n.727-48_727-37del
NM_001206855.3:c.214-48_214-37del	NP_001193784.1:n.214-48_214-37del