Canonical Allele Identifier: CA1105065308

Gene: TFR2

Linked Data

• dbSNP Id: rs1803279713
• gnomAD v3: 7-100626989-GGGAAGGGGGCTGGGACC-G
• gnomAD v4: 7-100626989-GGGAAGGGGGCTGGGACC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626990_100627006del , CM000669.2:g.100626990_100627006del	GRCh38
NC_000007.13:g.100224613_100224629del , CM000669.1:g.100224613_100224629del	GRCh37
NC_000007.12:g.100062549_100062565del	NCBI36
NG_007989.1:g.19545_19561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1996-103_1996-87del MANE Select	ENSP00000223051.3:n.1996-103_1996-87del
ENST00000223051.7:c.1996-103_1996-87del	ENSP00000223051.3:n.1996-103_1996-87del
ENST00000431692.5:c.*671-103_*671-87del	ENSP00000413905.1:n.*671-103_*671-87del
ENST00000461176.1:n.342-103_342-87del
ENST00000462090.5:n.1032-103_1032-87del
ENST00000462107.1:c.1996-103_1996-87del	ENSP00000420525.1:n.1996-103_1996-87del
ENST00000465294.5:n.1916-103_1916-87del
ENST00000476304.5:n.1617-103_1617-87del
ENST00000490084.5:c.1349-103_1349-87del
NM_001206855.1:c.1483-103_1483-87del	NP_001193784.1:n.1483-103_1483-87del
NM_003227.3:c.1996-103_1996-87del	NP_003218.2:n.1996-103_1996-87del
XM_005250553.3:c.1996-103_1996-87del	XP_005250610.1:n.1996-103_1996-87del
XM_005250554.3:c.1996-103_1996-87del	XP_005250611.1:n.1996-103_1996-87del
XR_927814.1:n.434-4166_434-4150del
NM_001206855.2:c.1483-103_1483-87del	NP_001193784.1:n.1483-103_1483-87del
XM_005250553.4:c.1996-103_1996-87del	XP_005250610.1:n.1996-103_1996-87del
XM_017012573.1:c.1996-103_1996-87del	XP_016868062.1:n.1996-103_1996-87del
NM_003227.4:c.1996-103_1996-87del MANE Select	NP_003218.2:n.1996-103_1996-87del
NM_001206855.3:c.1483-103_1483-87del	NP_001193784.1:n.1483-103_1483-87del