Canonical Allele Identifier: CA2840442985

Gene: EBF3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.129840901dup , CM000672.2:g.129840901dup	GRCh38
NC_000010.10:g.131639165dup , CM000672.1:g.131639165dup	GRCh37
NC_000010.9:g.131529155dup	NCBI36
NG_030038.1:g.127930dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355311.10:c.1507dup	ENSP00000347463.4:p.Val503GlyfsTer9
ENST00000368648.8:c.1480dup	ENSP00000357637.3:p.Val494GlyfsTer9
ENST00000440978.2:c.1507dup MANE Select	ENSP00000387543.2:p.Val503GlyfsTer9
ENST00000675373.1:n.1152dup
ENST00000355311.9:c.1507dup	ENSP00000347463.4:p.Val503GlyfsTer9
ENST00000368648.7:c.1480dup	ENSP00000357637.3:p.Val494GlyfsTer9
ENST00000440978.1:c.191dup
NM_001005463.2:c.1480dup	NP_001005463.1:p.Val494GlyfsTer9
XM_005252667.2:c.1480dup	XP_005252724.1:p.Val494GlyfsTer9
XM_005252668.2:c.1507dup	XP_005252725.1:p.Val503GlyfsTer9
XM_005252669.2:c.1480dup	XP_005252726.1:p.Val494GlyfsTer9
XM_006717739.2:c.1507dup	XP_006717802.1:p.Val503GlyfsTer9
XM_006717740.2:c.1507dup	XP_006717803.1:p.Val503GlyfsTer9
XM_006717741.2:c.1507dup	XP_006717804.1:p.Val503GlyfsTer9
XM_006717742.2:c.1507dup	XP_006717805.1:p.Val503GlyfsTer9
XM_006717743.2:c.1507dup	XP_006717806.1:p.Val503GlyfsTer9
XM_006717744.2:c.1373-564dup	XP_006717807.1:n.1373-564dup
XM_011539574.1:c.1222dup	XP_011537876.1:p.Val408GlyfsTer9
XM_011539575.1:c.991dup	XP_011537877.1:p.Val331GlyfsTer9
XM_005252667.3:c.1480dup	XP_005252724.1:p.Val494GlyfsTer9
XM_005252668.3:c.1507dup	XP_005252725.1:p.Val503GlyfsTer9
XM_005252669.3:c.1480dup	XP_005252726.1:p.Val494GlyfsTer9
XM_006717739.3:c.1507dup	XP_006717802.1:p.Val503GlyfsTer9
XM_006717740.3:c.1507dup	XP_006717803.1:p.Val503GlyfsTer9
XM_006717741.3:c.1507dup	XP_006717804.1:p.Val503GlyfsTer9
XM_006717742.3:c.1507dup	XP_006717805.1:p.Val503GlyfsTer9
XM_006717743.3:c.1507dup	XP_006717806.1:p.Val503GlyfsTer9
XM_006717744.3:c.1373-564dup	XP_006717807.1:n.1373-564dup
XM_011539574.2:c.1222dup	XP_011537876.1:p.Val408GlyfsTer9
XM_011539575.2:c.991dup	XP_011537877.1:p.Val331GlyfsTer9
XM_017016027.1:c.1373-564dup	XP_016871516.1:n.1373-564dup
XR_001747076.1:n.1986dup
NM_001005463.3:c.1480dup	NP_001005463.1:p.Val494GlyfsTer9
NM_001375379.1:c.1507dup	NP_001362308.1:p.Val503GlyfsTer9
NM_001375380.1:c.1507dup MANE Select	NP_001362309.1:p.Val503GlyfsTer9
NM_001375389.1:c.1507dup	NP_001362318.1:p.Val503GlyfsTer9
NM_001375390.1:c.1480dup	NP_001362319.1:p.Val494GlyfsTer9
NM_001375391.1:c.1507dup	NP_001362320.1:p.Val503GlyfsTer9
NM_001375392.1:c.1346-456dup	NP_001362321.1:n.1346-456dup