Canonical Allele Identifier: CA5748363

Gene: EBF3

Linked Data

• dbSNP Id: rs1554892411
• ExAC: 10:131639310 C / CCCG
• gnomAD v2: 10-131639310-C-CCCG
• gnomAD v3: 10-129841046-C-CCCG
• gnomAD v4: 10-129841046-C-CCCG
• MyVariant Identifiers: chr10:g.131639310_131639311insCCG (hg19) ; chr10:g.129841046_129841047insCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.129841048_129841049insGCC , CM000672.2:g.129841048_129841049insGCC	GRCh38
NC_000010.10:g.131639312_131639313insGCC , CM000672.1:g.131639312_131639313insGCC	GRCh37
NC_000010.9:g.131529302_131529303insGCC	NCBI36
NG_030038.1:g.127781_127782insCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355311.10:c.1373-15_1373-14insCGG	ENSP00000347463.4:n.1373-15_1373-14insCGG
ENST00000368648.8:c.1346-15_1346-14insCGG	ENSP00000357637.3:n.1346-15_1346-14insCGG
ENST00000440978.2:c.1373-15_1373-14insCGG MANE Select	ENSP00000387543.2:n.1373-15_1373-14insCGG
ENST00000675373.1:n.1018-15_1018-14insCGG
ENST00000355311.9:c.1373-15_1373-14insCGG	ENSP00000347463.4:n.1373-15_1373-14insCGG
ENST00000368648.7:c.1346-15_1346-14insCGG	ENSP00000357637.3:n.1346-15_1346-14insCGG
ENST00000440978.1:c.57-15_57-14insCGG
NM_001005463.2:c.1346-15_1346-14insCGG	NP_001005463.1:n.1346-15_1346-14insCGG
XM_005252667.2:c.1346-15_1346-14insCGG	XP_005252724.1:n.1346-15_1346-14insCGG
XM_005252668.2:c.1373-15_1373-14insCGG	XP_005252725.1:n.1373-15_1373-14insCGG
XM_005252669.2:c.1346-15_1346-14insCGG	XP_005252726.1:n.1346-15_1346-14insCGG
XM_006717739.2:c.1373-15_1373-14insCGG	XP_006717802.1:n.1373-15_1373-14insCGG
XM_006717740.2:c.1373-15_1373-14insCGG	XP_006717803.1:n.1373-15_1373-14insCGG
XM_006717741.2:c.1373-15_1373-14insCGG	XP_006717804.1:n.1373-15_1373-14insCGG
XM_006717742.2:c.1373-15_1373-14insCGG	XP_006717805.1:n.1373-15_1373-14insCGG
XM_006717743.2:c.1373-15_1373-14insCGG	XP_006717806.1:n.1373-15_1373-14insCGG
XM_006717744.2:c.1373-713_1373-712insCGG	XP_006717807.1:n.1373-713_1373-712insCGG
XM_011539574.1:c.1088-15_1088-14insCGG	XP_011537876.1:n.1088-15_1088-14insCGG
XM_011539575.1:c.857-15_857-14insCGG	XP_011537877.1:n.857-15_857-14insCGG
XM_005252667.3:c.1346-15_1346-14insCGG	XP_005252724.1:n.1346-15_1346-14insCGG
XM_005252668.3:c.1373-15_1373-14insCGG	XP_005252725.1:n.1373-15_1373-14insCGG
XM_005252669.3:c.1346-15_1346-14insCGG	XP_005252726.1:n.1346-15_1346-14insCGG
XM_006717739.3:c.1373-15_1373-14insCGG	XP_006717802.1:n.1373-15_1373-14insCGG
XM_006717740.3:c.1373-15_1373-14insCGG	XP_006717803.1:n.1373-15_1373-14insCGG
XM_006717741.3:c.1373-15_1373-14insCGG	XP_006717804.1:n.1373-15_1373-14insCGG
XM_006717742.3:c.1373-15_1373-14insCGG	XP_006717805.1:n.1373-15_1373-14insCGG
XM_006717743.3:c.1373-15_1373-14insCGG	XP_006717806.1:n.1373-15_1373-14insCGG
XM_006717744.3:c.1373-713_1373-712insCGG	XP_006717807.1:n.1373-713_1373-712insCGG
XM_011539574.2:c.1088-15_1088-14insCGG	XP_011537876.1:n.1088-15_1088-14insCGG
XM_011539575.2:c.857-15_857-14insCGG	XP_011537877.1:n.857-15_857-14insCGG
XM_017016027.1:c.1373-713_1373-712insCGG	XP_016871516.1:n.1373-713_1373-712insCGG
XR_001747076.1:n.1852-15_1852-14insCGG
NM_001005463.3:c.1346-15_1346-14insCGG	NP_001005463.1:n.1346-15_1346-14insCGG
NM_001375379.1:c.1373-15_1373-14insCGG	NP_001362308.1:n.1373-15_1373-14insCGG
NM_001375380.1:c.1373-15_1373-14insCGG MANE Select	NP_001362309.1:n.1373-15_1373-14insCGG
NM_001375389.1:c.1373-15_1373-14insCGG	NP_001362318.1:n.1373-15_1373-14insCGG
NM_001375390.1:c.1346-15_1346-14insCGG	NP_001362319.1:n.1346-15_1346-14insCGG
NM_001375391.1:c.1373-15_1373-14insCGG	NP_001362320.1:n.1373-15_1373-14insCGG
NM_001375392.1:c.1346-605_1346-604insCGG	NP_001362321.1:n.1346-605_1346-604insCGG