Canonical Allele Identifier: CA2684106601

Gene: TFR2

Linked Data

• gnomAD v4: 7-100626993-AGGGGGCTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626996_100627003del , CM000669.2:g.100626996_100627003del	GRCh38
NC_000007.13:g.100224619_100224626del , CM000669.1:g.100224619_100224626del	GRCh37
NC_000007.12:g.100062555_100062562del	NCBI36
NG_007989.1:g.19550_19557del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1996-98_1996-91del MANE Select	ENSP00000223051.3:n.1996-98_1996-91del
ENST00000223051.7:c.1996-98_1996-91del	ENSP00000223051.3:n.1996-98_1996-91del
ENST00000431692.5:c.*671-98_*671-91del	ENSP00000413905.1:n.*671-98_*671-91del
ENST00000461176.1:n.342-98_342-91del
ENST00000462090.5:n.1032-98_1032-91del
ENST00000462107.1:c.1996-98_1996-91del	ENSP00000420525.1:n.1996-98_1996-91del
ENST00000465294.5:n.1916-98_1916-91del
ENST00000476304.5:n.1617-98_1617-91del
ENST00000490084.5:c.1349-98_1349-91del
NM_001206855.1:c.1483-98_1483-91del	NP_001193784.1:n.1483-98_1483-91del
NM_003227.3:c.1996-98_1996-91del	NP_003218.2:n.1996-98_1996-91del
XM_005250553.3:c.1996-98_1996-91del	XP_005250610.1:n.1996-98_1996-91del
XM_005250554.3:c.1996-98_1996-91del	XP_005250611.1:n.1996-98_1996-91del
XR_927814.1:n.434-4160_434-4153del
NM_001206855.2:c.1483-98_1483-91del	NP_001193784.1:n.1483-98_1483-91del
XM_005250553.4:c.1996-98_1996-91del	XP_005250610.1:n.1996-98_1996-91del
XM_017012573.1:c.1996-98_1996-91del	XP_016868062.1:n.1996-98_1996-91del
NM_003227.4:c.1996-98_1996-91del MANE Select	NP_003218.2:n.1996-98_1996-91del
NM_001206855.3:c.1483-98_1483-91del	NP_001193784.1:n.1483-98_1483-91del