Canonical Allele Identifier: CA2611442422

Gene: EBF3

Linked Data

• gnomAD v4: 10-129841151-C-CATTAACATTGCTAATTGACCCTGTGCTTTCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.129841151_129841152insATTAACATTGCTAATTGACCCTGTGCTTTCCA , CM000672.2:g.129841151_129841152insATTAACATTGCTAATTGACCCTGTGCTTTCCA	GRCh38
NC_000010.10:g.131639415_131639416insATTAACATTGCTAATTGACCCTGTGCTTTCCA , CM000672.1:g.131639415_131639416insATTAACATTGCTAATTGACCCTGTGCTTTCCA	GRCh37
NC_000010.9:g.131529405_131529406insATTAACATTGCTAATTGACCCTGTGCTTTCCA	NCBI36
NG_030038.1:g.127676_127677insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355311.10:c.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	ENSP00000347463.4:n.1373-120_1373-119insTGGAAAGCACAGGGTCAATTA...
ENST00000368648.8:c.1346-120_1346-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	ENSP00000357637.3:n.1346-120_1346-119insTGGAAAGCACAGGGTCAATTA...
ENST00000440978.2:c.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT MANE Select	ENSP00000387543.2:n.1373-120_1373-119insTGGAAAGCACAGGGTCAATTA...
ENST00000675373.1:n.1018-120_1018-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT
ENST00000355311.9:c.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	ENSP00000347463.4:n.1373-120_1373-119insTGGAAAGCACAGGGTCAATTA...
ENST00000368648.7:c.1346-120_1346-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	ENSP00000357637.3:n.1346-120_1346-119insTGGAAAGCACAGGGTCAATTA...
ENST00000440978.1:c.57-120_57-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT
NM_001005463.2:c.1346-120_1346-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	NP_001005463.1:n.1346-120_1346-119insTGGAAAGCACAGGGTCAATTAGCA...
XM_005252667.2:c.1346-120_1346-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	XP_005252724.1:n.1346-120_1346-119insTGGAAAGCACAGGGTCAATTAGCA...
XM_005252668.2:c.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	XP_005252725.1:n.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCA...
XM_005252669.2:c.1346-120_1346-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	XP_005252726.1:n.1346-120_1346-119insTGGAAAGCACAGGGTCAATTAGCA...
XM_006717739.2:c.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	XP_006717802.1:n.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCA...
XM_006717740.2:c.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	XP_006717803.1:n.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCA...
XM_006717741.2:c.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	XP_006717804.1:n.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCA...
XM_006717742.2:c.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	XP_006717805.1:n.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCA...
XM_006717743.2:c.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	XP_006717806.1:n.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCA...
XM_006717744.2:c.1373-818_1373-817insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	XP_006717807.1:n.1373-818_1373-817insTGGAAAGCACAGGGTCAATTAGCA...
XM_011539574.1:c.1088-120_1088-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	XP_011537876.1:n.1088-120_1088-119insTGGAAAGCACAGGGTCAATTAGCA...
XM_011539575.1:c.857-120_857-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	XP_011537877.1:n.857-120_857-119insTGGAAAGCACAGGGTCAATTAGCAAT...
XM_005252667.3:c.1346-120_1346-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	XP_005252724.1:n.1346-120_1346-119insTGGAAAGCACAGGGTCAATTAGCA...
XM_005252668.3:c.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	XP_005252725.1:n.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCA...
XM_005252669.3:c.1346-120_1346-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	XP_005252726.1:n.1346-120_1346-119insTGGAAAGCACAGGGTCAATTAGCA...
XM_006717739.3:c.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	XP_006717802.1:n.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCA...
XM_006717740.3:c.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	XP_006717803.1:n.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCA...
XM_006717741.3:c.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	XP_006717804.1:n.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCA...
XM_006717742.3:c.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	XP_006717805.1:n.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCA...
XM_006717743.3:c.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	XP_006717806.1:n.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCA...
XM_006717744.3:c.1373-818_1373-817insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	XP_006717807.1:n.1373-818_1373-817insTGGAAAGCACAGGGTCAATTAGCA...
XM_011539574.2:c.1088-120_1088-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	XP_011537876.1:n.1088-120_1088-119insTGGAAAGCACAGGGTCAATTAGCA...
XM_011539575.2:c.857-120_857-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	XP_011537877.1:n.857-120_857-119insTGGAAAGCACAGGGTCAATTAGCAAT...
XM_017016027.1:c.1373-818_1373-817insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	XP_016871516.1:n.1373-818_1373-817insTGGAAAGCACAGGGTCAATTAGCA...
XR_001747076.1:n.1852-120_1852-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT
NM_001005463.3:c.1346-120_1346-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	NP_001005463.1:n.1346-120_1346-119insTGGAAAGCACAGGGTCAATTAGCA...
NM_001375379.1:c.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	NP_001362308.1:n.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCA...
NM_001375380.1:c.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT MANE Select	NP_001362309.1:n.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCA...
NM_001375389.1:c.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	NP_001362318.1:n.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCA...
NM_001375390.1:c.1346-120_1346-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	NP_001362319.1:n.1346-120_1346-119insTGGAAAGCACAGGGTCAATTAGCA...
NM_001375391.1:c.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	NP_001362320.1:n.1373-120_1373-119insTGGAAAGCACAGGGTCAATTAGCA...
NM_001375392.1:c.1346-710_1346-709insTGGAAAGCACAGGGTCAATTAGCAATGTTAAT	NP_001362321.1:n.1346-710_1346-709insTGGAAAGCACAGGGTCAATTAGCA...