Canonical Allele Identifier: CA5748369

Gene: EBF3

Linked Data

• dbSNP Id: rs755476348
• ExAC: 10:131639312 C / CCCCA
• gnomAD v2: 10-131639312-C-CCCCA
• gnomAD v4: 10-129841048-C-CCCCA
• MyVariant Identifiers: chr10:g.131639312_131639313insCCCA (hg19) ; chr10:g.129841048_129841049insCCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.129841051_129841052insACCC , CM000672.2:g.129841051_129841052insACCC	GRCh38
NC_000010.10:g.131639315_131639316insACCC , CM000672.1:g.131639315_131639316insACCC	GRCh37
NC_000010.9:g.131529305_131529306insACCC	NCBI36
NG_030038.1:g.127779_127780insTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355311.10:c.1373-17_1373-16insTGGG	ENSP00000347463.4:n.1373-17_1373-16insTGGG
ENST00000368648.8:c.1346-17_1346-16insTGGG	ENSP00000357637.3:n.1346-17_1346-16insTGGG
ENST00000440978.2:c.1373-17_1373-16insTGGG MANE Select	ENSP00000387543.2:n.1373-17_1373-16insTGGG
ENST00000675373.1:n.1018-17_1018-16insTGGG
ENST00000355311.9:c.1373-17_1373-16insTGGG	ENSP00000347463.4:n.1373-17_1373-16insTGGG
ENST00000368648.7:c.1346-17_1346-16insTGGG	ENSP00000357637.3:n.1346-17_1346-16insTGGG
ENST00000440978.1:c.57-17_57-16insTGGG
NM_001005463.2:c.1346-17_1346-16insTGGG	NP_001005463.1:n.1346-17_1346-16insTGGG
XM_005252667.2:c.1346-17_1346-16insTGGG	XP_005252724.1:n.1346-17_1346-16insTGGG
XM_005252668.2:c.1373-17_1373-16insTGGG	XP_005252725.1:n.1373-17_1373-16insTGGG
XM_005252669.2:c.1346-17_1346-16insTGGG	XP_005252726.1:n.1346-17_1346-16insTGGG
XM_006717739.2:c.1373-17_1373-16insTGGG	XP_006717802.1:n.1373-17_1373-16insTGGG
XM_006717740.2:c.1373-17_1373-16insTGGG	XP_006717803.1:n.1373-17_1373-16insTGGG
XM_006717741.2:c.1373-17_1373-16insTGGG	XP_006717804.1:n.1373-17_1373-16insTGGG
XM_006717742.2:c.1373-17_1373-16insTGGG	XP_006717805.1:n.1373-17_1373-16insTGGG
XM_006717743.2:c.1373-17_1373-16insTGGG	XP_006717806.1:n.1373-17_1373-16insTGGG
XM_006717744.2:c.1373-715_1373-714insTGGG	XP_006717807.1:n.1373-715_1373-714insTGGG
XM_011539574.1:c.1088-17_1088-16insTGGG	XP_011537876.1:n.1088-17_1088-16insTGGG
XM_011539575.1:c.857-17_857-16insTGGG	XP_011537877.1:n.857-17_857-16insTGGG
XM_005252667.3:c.1346-17_1346-16insTGGG	XP_005252724.1:n.1346-17_1346-16insTGGG
XM_005252668.3:c.1373-17_1373-16insTGGG	XP_005252725.1:n.1373-17_1373-16insTGGG
XM_005252669.3:c.1346-17_1346-16insTGGG	XP_005252726.1:n.1346-17_1346-16insTGGG
XM_006717739.3:c.1373-17_1373-16insTGGG	XP_006717802.1:n.1373-17_1373-16insTGGG
XM_006717740.3:c.1373-17_1373-16insTGGG	XP_006717803.1:n.1373-17_1373-16insTGGG
XM_006717741.3:c.1373-17_1373-16insTGGG	XP_006717804.1:n.1373-17_1373-16insTGGG
XM_006717742.3:c.1373-17_1373-16insTGGG	XP_006717805.1:n.1373-17_1373-16insTGGG
XM_006717743.3:c.1373-17_1373-16insTGGG	XP_006717806.1:n.1373-17_1373-16insTGGG
XM_006717744.3:c.1373-715_1373-714insTGGG	XP_006717807.1:n.1373-715_1373-714insTGGG
XM_011539574.2:c.1088-17_1088-16insTGGG	XP_011537876.1:n.1088-17_1088-16insTGGG
XM_011539575.2:c.857-17_857-16insTGGG	XP_011537877.1:n.857-17_857-16insTGGG
XM_017016027.1:c.1373-715_1373-714insTGGG	XP_016871516.1:n.1373-715_1373-714insTGGG
XR_001747076.1:n.1852-17_1852-16insTGGG
NM_001005463.3:c.1346-17_1346-16insTGGG	NP_001005463.1:n.1346-17_1346-16insTGGG
NM_001375379.1:c.1373-17_1373-16insTGGG	NP_001362308.1:n.1373-17_1373-16insTGGG
NM_001375380.1:c.1373-17_1373-16insTGGG MANE Select	NP_001362309.1:n.1373-17_1373-16insTGGG
NM_001375389.1:c.1373-17_1373-16insTGGG	NP_001362318.1:n.1373-17_1373-16insTGGG
NM_001375390.1:c.1346-17_1346-16insTGGG	NP_001362319.1:n.1346-17_1346-16insTGGG
NM_001375391.1:c.1373-17_1373-16insTGGG	NP_001362320.1:n.1373-17_1373-16insTGGG
NM_001375392.1:c.1346-607_1346-606insTGGG	NP_001362321.1:n.1346-607_1346-606insTGGG