Canonical Allele Identifier: CA5748357

Gene: EBF3

Linked Data

• dbSNP Id: rs1554892401
• ExAC: 10:131639309 C / CCCCG
• gnomAD v2: 10-131639309-C-CCCCG
• gnomAD v3: 10-129841045-C-CCCCG
• gnomAD v4: 10-129841045-C-CCCCG
• MyVariant Identifiers: chr10:g.131639309_131639310insCCCG (hg19) ; chr10:g.129841045_129841046insCCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.129841048_129841049insGCCC , CM000672.2:g.129841048_129841049insGCCC	GRCh38
NC_000010.10:g.131639312_131639313insGCCC , CM000672.1:g.131639312_131639313insGCCC	GRCh37
NC_000010.9:g.131529302_131529303insGCCC	NCBI36
NG_030038.1:g.127782_127783insCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355311.10:c.1373-14_1373-13insCGGG	ENSP00000347463.4:n.1373-14_1373-13insCGGG
ENST00000368648.8:c.1346-14_1346-13insCGGG	ENSP00000357637.3:n.1346-14_1346-13insCGGG
ENST00000440978.2:c.1373-14_1373-13insCGGG MANE Select	ENSP00000387543.2:n.1373-14_1373-13insCGGG
ENST00000675373.1:n.1018-14_1018-13insCGGG
ENST00000355311.9:c.1373-14_1373-13insCGGG	ENSP00000347463.4:n.1373-14_1373-13insCGGG
ENST00000368648.7:c.1346-14_1346-13insCGGG	ENSP00000357637.3:n.1346-14_1346-13insCGGG
ENST00000440978.1:c.57-14_57-13insCGGG
NM_001005463.2:c.1346-14_1346-13insCGGG	NP_001005463.1:n.1346-14_1346-13insCGGG
XM_005252667.2:c.1346-14_1346-13insCGGG	XP_005252724.1:n.1346-14_1346-13insCGGG
XM_005252668.2:c.1373-14_1373-13insCGGG	XP_005252725.1:n.1373-14_1373-13insCGGG
XM_005252669.2:c.1346-14_1346-13insCGGG	XP_005252726.1:n.1346-14_1346-13insCGGG
XM_006717739.2:c.1373-14_1373-13insCGGG	XP_006717802.1:n.1373-14_1373-13insCGGG
XM_006717740.2:c.1373-14_1373-13insCGGG	XP_006717803.1:n.1373-14_1373-13insCGGG
XM_006717741.2:c.1373-14_1373-13insCGGG	XP_006717804.1:n.1373-14_1373-13insCGGG
XM_006717742.2:c.1373-14_1373-13insCGGG	XP_006717805.1:n.1373-14_1373-13insCGGG
XM_006717743.2:c.1373-14_1373-13insCGGG	XP_006717806.1:n.1373-14_1373-13insCGGG
XM_006717744.2:c.1373-712_1373-711insCGGG	XP_006717807.1:n.1373-712_1373-711insCGGG
XM_011539574.1:c.1088-14_1088-13insCGGG	XP_011537876.1:n.1088-14_1088-13insCGGG
XM_011539575.1:c.857-14_857-13insCGGG	XP_011537877.1:n.857-14_857-13insCGGG
XM_005252667.3:c.1346-14_1346-13insCGGG	XP_005252724.1:n.1346-14_1346-13insCGGG
XM_005252668.3:c.1373-14_1373-13insCGGG	XP_005252725.1:n.1373-14_1373-13insCGGG
XM_005252669.3:c.1346-14_1346-13insCGGG	XP_005252726.1:n.1346-14_1346-13insCGGG
XM_006717739.3:c.1373-14_1373-13insCGGG	XP_006717802.1:n.1373-14_1373-13insCGGG
XM_006717740.3:c.1373-14_1373-13insCGGG	XP_006717803.1:n.1373-14_1373-13insCGGG
XM_006717741.3:c.1373-14_1373-13insCGGG	XP_006717804.1:n.1373-14_1373-13insCGGG
XM_006717742.3:c.1373-14_1373-13insCGGG	XP_006717805.1:n.1373-14_1373-13insCGGG
XM_006717743.3:c.1373-14_1373-13insCGGG	XP_006717806.1:n.1373-14_1373-13insCGGG
XM_006717744.3:c.1373-712_1373-711insCGGG	XP_006717807.1:n.1373-712_1373-711insCGGG
XM_011539574.2:c.1088-14_1088-13insCGGG	XP_011537876.1:n.1088-14_1088-13insCGGG
XM_011539575.2:c.857-14_857-13insCGGG	XP_011537877.1:n.857-14_857-13insCGGG
XM_017016027.1:c.1373-712_1373-711insCGGG	XP_016871516.1:n.1373-712_1373-711insCGGG
XR_001747076.1:n.1852-14_1852-13insCGGG
NM_001005463.3:c.1346-14_1346-13insCGGG	NP_001005463.1:n.1346-14_1346-13insCGGG
NM_001375379.1:c.1373-14_1373-13insCGGG	NP_001362308.1:n.1373-14_1373-13insCGGG
NM_001375380.1:c.1373-14_1373-13insCGGG MANE Select	NP_001362309.1:n.1373-14_1373-13insCGGG
NM_001375389.1:c.1373-14_1373-13insCGGG	NP_001362318.1:n.1373-14_1373-13insCGGG
NM_001375390.1:c.1346-14_1346-13insCGGG	NP_001362319.1:n.1346-14_1346-13insCGGG
NM_001375391.1:c.1373-14_1373-13insCGGG	NP_001362320.1:n.1373-14_1373-13insCGGG
NM_001375392.1:c.1346-604_1346-603insCGGG	NP_001362321.1:n.1346-604_1346-603insCGGG