Canonical Allele Identifier: CA2611442367

Gene: EBF3

Linked Data

• gnomAD v4: 10-129841051-C-CCCCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.129841051_129841052insCCCCG , CM000672.2:g.129841051_129841052insCCCCG	GRCh38
NC_000010.10:g.131639315_131639316insCCCCG , CM000672.1:g.131639315_131639316insCCCCG	GRCh37
NC_000010.9:g.131529305_131529306insCCCCG	NCBI36
NG_030038.1:g.127776_127777insCGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355311.10:c.1373-20_1373-19insCGGGG	ENSP00000347463.4:n.1373-20_1373-19insCGGGG
ENST00000368648.8:c.1346-20_1346-19insCGGGG	ENSP00000357637.3:n.1346-20_1346-19insCGGGG
ENST00000440978.2:c.1373-20_1373-19insCGGGG MANE Select	ENSP00000387543.2:n.1373-20_1373-19insCGGGG
ENST00000675373.1:n.1018-20_1018-19insCGGGG
ENST00000355311.9:c.1373-20_1373-19insCGGGG	ENSP00000347463.4:n.1373-20_1373-19insCGGGG
ENST00000368648.7:c.1346-20_1346-19insCGGGG	ENSP00000357637.3:n.1346-20_1346-19insCGGGG
ENST00000440978.1:c.57-20_57-19insCGGGG
NM_001005463.2:c.1346-20_1346-19insCGGGG	NP_001005463.1:n.1346-20_1346-19insCGGGG
XM_005252667.2:c.1346-20_1346-19insCGGGG	XP_005252724.1:n.1346-20_1346-19insCGGGG
XM_005252668.2:c.1373-20_1373-19insCGGGG	XP_005252725.1:n.1373-20_1373-19insCGGGG
XM_005252669.2:c.1346-20_1346-19insCGGGG	XP_005252726.1:n.1346-20_1346-19insCGGGG
XM_006717739.2:c.1373-20_1373-19insCGGGG	XP_006717802.1:n.1373-20_1373-19insCGGGG
XM_006717740.2:c.1373-20_1373-19insCGGGG	XP_006717803.1:n.1373-20_1373-19insCGGGG
XM_006717741.2:c.1373-20_1373-19insCGGGG	XP_006717804.1:n.1373-20_1373-19insCGGGG
XM_006717742.2:c.1373-20_1373-19insCGGGG	XP_006717805.1:n.1373-20_1373-19insCGGGG
XM_006717743.2:c.1373-20_1373-19insCGGGG	XP_006717806.1:n.1373-20_1373-19insCGGGG
XM_006717744.2:c.1373-718_1373-717insCGGGG	XP_006717807.1:n.1373-718_1373-717insCGGGG
XM_011539574.1:c.1088-20_1088-19insCGGGG	XP_011537876.1:n.1088-20_1088-19insCGGGG
XM_011539575.1:c.857-20_857-19insCGGGG	XP_011537877.1:n.857-20_857-19insCGGGG
XM_005252667.3:c.1346-20_1346-19insCGGGG	XP_005252724.1:n.1346-20_1346-19insCGGGG
XM_005252668.3:c.1373-20_1373-19insCGGGG	XP_005252725.1:n.1373-20_1373-19insCGGGG
XM_005252669.3:c.1346-20_1346-19insCGGGG	XP_005252726.1:n.1346-20_1346-19insCGGGG
XM_006717739.3:c.1373-20_1373-19insCGGGG	XP_006717802.1:n.1373-20_1373-19insCGGGG
XM_006717740.3:c.1373-20_1373-19insCGGGG	XP_006717803.1:n.1373-20_1373-19insCGGGG
XM_006717741.3:c.1373-20_1373-19insCGGGG	XP_006717804.1:n.1373-20_1373-19insCGGGG
XM_006717742.3:c.1373-20_1373-19insCGGGG	XP_006717805.1:n.1373-20_1373-19insCGGGG
XM_006717743.3:c.1373-20_1373-19insCGGGG	XP_006717806.1:n.1373-20_1373-19insCGGGG
XM_006717744.3:c.1373-718_1373-717insCGGGG	XP_006717807.1:n.1373-718_1373-717insCGGGG
XM_011539574.2:c.1088-20_1088-19insCGGGG	XP_011537876.1:n.1088-20_1088-19insCGGGG
XM_011539575.2:c.857-20_857-19insCGGGG	XP_011537877.1:n.857-20_857-19insCGGGG
XM_017016027.1:c.1373-718_1373-717insCGGGG	XP_016871516.1:n.1373-718_1373-717insCGGGG
XR_001747076.1:n.1852-20_1852-19insCGGGG
NM_001005463.3:c.1346-20_1346-19insCGGGG	NP_001005463.1:n.1346-20_1346-19insCGGGG
NM_001375379.1:c.1373-20_1373-19insCGGGG	NP_001362308.1:n.1373-20_1373-19insCGGGG
NM_001375380.1:c.1373-20_1373-19insCGGGG MANE Select	NP_001362309.1:n.1373-20_1373-19insCGGGG
NM_001375389.1:c.1373-20_1373-19insCGGGG	NP_001362318.1:n.1373-20_1373-19insCGGGG
NM_001375390.1:c.1346-20_1346-19insCGGGG	NP_001362319.1:n.1346-20_1346-19insCGGGG
NM_001375391.1:c.1373-20_1373-19insCGGGG	NP_001362320.1:n.1373-20_1373-19insCGGGG
NM_001375392.1:c.1346-610_1346-609insCGGGG	NP_001362321.1:n.1346-610_1346-609insCGGGG