Canonical Allele Identifier: CA2684106611

Gene: TFR2

Linked Data

• gnomAD v4: 7-100626999-CTGGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627000_100627004del , CM000669.2:g.100627000_100627004del	GRCh38
NC_000007.13:g.100224623_100224627del , CM000669.1:g.100224623_100224627del	GRCh37
NC_000007.12:g.100062559_100062563del	NCBI36
NG_007989.1:g.19547_19551del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1996-101_1996-97del MANE Select	ENSP00000223051.3:n.1996-101_1996-97del
ENST00000223051.7:c.1996-101_1996-97del	ENSP00000223051.3:n.1996-101_1996-97del
ENST00000431692.5:c.*671-101_*671-97del	ENSP00000413905.1:n.*671-101_*671-97del
ENST00000461176.1:n.342-101_342-97del
ENST00000462090.5:n.1032-101_1032-97del
ENST00000462107.1:c.1996-101_1996-97del	ENSP00000420525.1:n.1996-101_1996-97del
ENST00000465294.5:n.1916-101_1916-97del
ENST00000476304.5:n.1617-101_1617-97del
ENST00000490084.5:c.1349-101_1349-97del
NM_001206855.1:c.1483-101_1483-97del	NP_001193784.1:n.1483-101_1483-97del
NM_003227.3:c.1996-101_1996-97del	NP_003218.2:n.1996-101_1996-97del
XM_005250553.3:c.1996-101_1996-97del	XP_005250610.1:n.1996-101_1996-97del
XM_005250554.3:c.1996-101_1996-97del	XP_005250611.1:n.1996-101_1996-97del
XR_927814.1:n.434-4156_434-4152del
NM_001206855.2:c.1483-101_1483-97del	NP_001193784.1:n.1483-101_1483-97del
XM_005250553.4:c.1996-101_1996-97del	XP_005250610.1:n.1996-101_1996-97del
XM_017012573.1:c.1996-101_1996-97del	XP_016868062.1:n.1996-101_1996-97del
NM_003227.4:c.1996-101_1996-97del MANE Select	NP_003218.2:n.1996-101_1996-97del
NM_001206855.3:c.1483-101_1483-97del	NP_001193784.1:n.1483-101_1483-97del