Canonical Allele Identifier: CA16044301

Gene: EBF3

Linked Data

• ClinVar Variation Id: 375502
• ClinVar RCV Id: RCV000416978 ; RCV001003596
• dbSNP Id: rs1057519521
• MyVariant Identifiers: chr10:g.131761639_131761642del (hg19) ; chr10:g.129963375_129963378del (hg38)
• PubMed: PMID:28017370 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.129963375_129963378del , CM000672.2:g.129963375_129963378del	GRCh38
NC_000010.10:g.131761639_131761642del , CM000672.1:g.131761639_131761642del	GRCh37
NC_000010.9:g.131651629_131651632del	NCBI36
NG_030038.1:g.5450_5453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682649.1:n.230_233del
ENST00000355311.10:c.280_283del	ENSP00000347463.4:p.Glu94LysfsTer?
ENST00000368648.8:c.280_283del	ENSP00000357637.3:p.Glu94LysfsTer?
ENST00000440978.2:c.280_283del MANE Select	ENSP00000387543.2:p.Glu94LysfsTer?
ENST00000355311.9:c.280_283del	ENSP00000347463.4:p.Glu94LysfsTer?
ENST00000368648.7:c.280_283del	ENSP00000357637.3:p.Glu94LysfsTer?
NM_001005463.2:c.280_283del	NP_001005463.1:p.Glu94LysfsTer?
XM_005252667.2:c.280_283del	XP_005252724.1:p.Glu94LysfsTer?
XM_005252668.2:c.280_283del	XP_005252725.1:p.Glu94LysfsTer?
XM_005252669.2:c.280_283del	XP_005252726.1:p.Glu94LysfsTer?
XM_006717739.2:c.280_283del	XP_006717802.1:p.Glu94LysfsTer?
XM_006717740.2:c.280_283del	XP_006717803.1:p.Glu94LysfsTer?
XM_006717741.2:c.280_283del	XP_006717804.1:p.Glu94LysfsTer?
XM_006717742.2:c.280_283del	XP_006717805.1:p.Glu94LysfsTer?
XM_006717743.2:c.280_283del	XP_006717806.1:p.Glu94LysfsTer?
XM_006717744.2:c.280_283del	XP_006717807.1:p.Glu94LysfsTer?
XM_011539574.1:c.280_283del	XP_011537876.1:p.Glu94LysfsTer?
XM_011539576.1:c.280_283del	XP_011537878.1:p.Glu94LysfsTer?
XM_005252667.3:c.280_283del	XP_005252724.1:p.Glu94LysfsTer?
XM_005252668.3:c.280_283del	XP_005252725.1:p.Glu94LysfsTer?
XM_005252669.3:c.280_283del	XP_005252726.1:p.Glu94LysfsTer?
XM_006717739.3:c.280_283del	XP_006717802.1:p.Glu94LysfsTer?
XM_006717740.3:c.280_283del	XP_006717803.1:p.Glu94LysfsTer?
XM_006717741.3:c.280_283del	XP_006717804.1:p.Glu94LysfsTer?
XM_006717742.3:c.280_283del	XP_006717805.1:p.Glu94LysfsTer?
XM_006717743.3:c.280_283del	XP_006717806.1:p.Glu94LysfsTer?
XM_006717744.3:c.280_283del	XP_006717807.1:p.Glu94LysfsTer?
XM_011539574.2:c.280_283del	XP_011537876.1:p.Glu94LysfsTer?
XM_017016027.1:c.280_283del	XP_016871516.1:p.Glu94LysfsTer?
XR_001747076.1:n.786_789del
NM_001005463.3:c.280_283del	NP_001005463.1:p.Glu94LysfsTer?
NM_001375379.1:c.280_283del	NP_001362308.1:p.Glu94LysfsTer?
NM_001375380.1:c.280_283del MANE Select	NP_001362309.1:p.Glu94LysfsTer?
NM_001375389.1:c.280_283del	NP_001362318.1:p.Glu94LysfsTer?
NM_001375390.1:c.280_283del	NP_001362319.1:p.Glu94LysfsTer?
NM_001375391.1:c.280_283del	NP_001362320.1:p.Glu94LysfsTer?
NM_001375392.1:c.280_283del	NP_001362321.1:p.Glu94LysfsTer?