Canonical Allele Identifier: CA5748372

Gene: EBF3

Linked Data

• dbSNP Id: rs758696740
• ExAC: 10:131639315 CGG / C
• gnomAD v2: 10-131639315-CGG-C
• gnomAD v3: 10-129841051-CGG-C
• gnomAD v4: 10-129841051-CGG-C
• MyVariant Identifiers: chr10:g.131639316_131639317del (hg19) ; chr10:g.129841052_129841053del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.129841052_129841053del , CM000672.2:g.129841052_129841053del	GRCh38
NC_000010.10:g.131639316_131639317del , CM000672.1:g.131639316_131639317del	GRCh37
NC_000010.9:g.131529306_131529307del	NCBI36
NG_030038.1:g.127775_127776del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355311.10:c.1373-21_1373-20del	ENSP00000347463.4:n.1373-21_1373-20del
ENST00000368648.8:c.1346-21_1346-20del	ENSP00000357637.3:n.1346-21_1346-20del
ENST00000440978.2:c.1373-21_1373-20del MANE Select	ENSP00000387543.2:n.1373-21_1373-20del
ENST00000675373.1:n.1018-21_1018-20del
ENST00000355311.9:c.1373-21_1373-20del	ENSP00000347463.4:n.1373-21_1373-20del
ENST00000368648.7:c.1346-21_1346-20del	ENSP00000357637.3:n.1346-21_1346-20del
ENST00000440978.1:c.57-21_57-20del
NM_001005463.2:c.1346-21_1346-20del	NP_001005463.1:n.1346-21_1346-20del
XM_005252667.2:c.1346-21_1346-20del	XP_005252724.1:n.1346-21_1346-20del
XM_005252668.2:c.1373-21_1373-20del	XP_005252725.1:n.1373-21_1373-20del
XM_005252669.2:c.1346-21_1346-20del	XP_005252726.1:n.1346-21_1346-20del
XM_006717739.2:c.1373-21_1373-20del	XP_006717802.1:n.1373-21_1373-20del
XM_006717740.2:c.1373-21_1373-20del	XP_006717803.1:n.1373-21_1373-20del
XM_006717741.2:c.1373-21_1373-20del	XP_006717804.1:n.1373-21_1373-20del
XM_006717742.2:c.1373-21_1373-20del	XP_006717805.1:n.1373-21_1373-20del
XM_006717743.2:c.1373-21_1373-20del	XP_006717806.1:n.1373-21_1373-20del
XM_006717744.2:c.1373-719_1373-718del	XP_006717807.1:n.1373-719_1373-718del
XM_011539574.1:c.1088-21_1088-20del	XP_011537876.1:n.1088-21_1088-20del
XM_011539575.1:c.857-21_857-20del	XP_011537877.1:n.857-21_857-20del
XM_005252667.3:c.1346-21_1346-20del	XP_005252724.1:n.1346-21_1346-20del
XM_005252668.3:c.1373-21_1373-20del	XP_005252725.1:n.1373-21_1373-20del
XM_005252669.3:c.1346-21_1346-20del	XP_005252726.1:n.1346-21_1346-20del
XM_006717739.3:c.1373-21_1373-20del	XP_006717802.1:n.1373-21_1373-20del
XM_006717740.3:c.1373-21_1373-20del	XP_006717803.1:n.1373-21_1373-20del
XM_006717741.3:c.1373-21_1373-20del	XP_006717804.1:n.1373-21_1373-20del
XM_006717742.3:c.1373-21_1373-20del	XP_006717805.1:n.1373-21_1373-20del
XM_006717743.3:c.1373-21_1373-20del	XP_006717806.1:n.1373-21_1373-20del
XM_006717744.3:c.1373-719_1373-718del	XP_006717807.1:n.1373-719_1373-718del
XM_011539574.2:c.1088-21_1088-20del	XP_011537876.1:n.1088-21_1088-20del
XM_011539575.2:c.857-21_857-20del	XP_011537877.1:n.857-21_857-20del
XM_017016027.1:c.1373-719_1373-718del	XP_016871516.1:n.1373-719_1373-718del
XR_001747076.1:n.1852-21_1852-20del
NM_001005463.3:c.1346-21_1346-20del	NP_001005463.1:n.1346-21_1346-20del
NM_001375379.1:c.1373-21_1373-20del	NP_001362308.1:n.1373-21_1373-20del
NM_001375380.1:c.1373-21_1373-20del MANE Select	NP_001362309.1:n.1373-21_1373-20del
NM_001375389.1:c.1373-21_1373-20del	NP_001362318.1:n.1373-21_1373-20del
NM_001375390.1:c.1346-21_1346-20del	NP_001362319.1:n.1346-21_1346-20del
NM_001375391.1:c.1373-21_1373-20del	NP_001362320.1:n.1373-21_1373-20del
NM_001375392.1:c.1346-611_1346-610del	NP_001362321.1:n.1346-611_1346-610del