Canonical Allele Identifier: CA2611442316

Gene: EBF3

Linked Data

• ClinVar Variation Id: 2637393
• ClinVar RCV Id: RCV004536775
• gnomAD v4: 10-129840944-GCTGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.129840948_129840951del , CM000672.2:g.129840948_129840951del	GRCh38
NC_000010.10:g.131639212_131639215del , CM000672.1:g.131639212_131639215del	GRCh37
NC_000010.9:g.131529202_131529205del	NCBI36
NG_030038.1:g.127880_127883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355311.10:c.1457_1460del	ENSP00000347463.4:p.Val486AlafsTer4
ENST00000368648.8:c.1430_1433del	ENSP00000357637.3:p.Val477AlafsTer4
ENST00000440978.2:c.1457_1460del MANE Select	ENSP00000387543.2:p.Val486AlafsTer4
ENST00000675373.1:n.1102_1105del
ENST00000355311.9:c.1457_1460del	ENSP00000347463.4:p.Val486AlafsTer4
ENST00000368648.7:c.1430_1433del	ENSP00000357637.3:p.Val477AlafsTer4
ENST00000440978.1:c.141_144del
NM_001005463.2:c.1430_1433del	NP_001005463.1:p.Val477AlafsTer4
XM_005252667.2:c.1430_1433del	XP_005252724.1:p.Val477AlafsTer4
XM_005252668.2:c.1457_1460del	XP_005252725.1:p.Val486AlafsTer4
XM_005252669.2:c.1430_1433del	XP_005252726.1:p.Val477AlafsTer4
XM_006717739.2:c.1457_1460del	XP_006717802.1:p.Val486AlafsTer4
XM_006717740.2:c.1457_1460del	XP_006717803.1:p.Val486AlafsTer4
XM_006717741.2:c.1457_1460del	XP_006717804.1:p.Val486AlafsTer4
XM_006717742.2:c.1457_1460del	XP_006717805.1:p.Val486AlafsTer4
XM_006717743.2:c.1457_1460del	XP_006717806.1:p.Val486AlafsTer4
XM_006717744.2:c.1373-614_1373-611del	XP_006717807.1:n.1373-614_1373-611del
XM_011539574.1:c.1172_1175del	XP_011537876.1:p.Val391AlafsTer4
XM_011539575.1:c.941_944del	XP_011537877.1:p.Val314AlafsTer4
XM_005252667.3:c.1430_1433del	XP_005252724.1:p.Val477AlafsTer4
XM_005252668.3:c.1457_1460del	XP_005252725.1:p.Val486AlafsTer4
XM_005252669.3:c.1430_1433del	XP_005252726.1:p.Val477AlafsTer4
XM_006717739.3:c.1457_1460del	XP_006717802.1:p.Val486AlafsTer4
XM_006717740.3:c.1457_1460del	XP_006717803.1:p.Val486AlafsTer4
XM_006717741.3:c.1457_1460del	XP_006717804.1:p.Val486AlafsTer4
XM_006717742.3:c.1457_1460del	XP_006717805.1:p.Val486AlafsTer4
XM_006717743.3:c.1457_1460del	XP_006717806.1:p.Val486AlafsTer4
XM_006717744.3:c.1373-614_1373-611del	XP_006717807.1:n.1373-614_1373-611del
XM_011539574.2:c.1172_1175del	XP_011537876.1:p.Val391AlafsTer4
XM_011539575.2:c.941_944del	XP_011537877.1:p.Val314AlafsTer4
XM_017016027.1:c.1373-614_1373-611del	XP_016871516.1:n.1373-614_1373-611del
XR_001747076.1:n.1936_1939del
NM_001005463.3:c.1430_1433del	NP_001005463.1:p.Val477AlafsTer4
NM_001375379.1:c.1457_1460del	NP_001362308.1:p.Val486AlafsTer4
NM_001375380.1:c.1457_1460del MANE Select	NP_001362309.1:p.Val486AlafsTer4
NM_001375389.1:c.1457_1460del	NP_001362318.1:p.Val486AlafsTer4
NM_001375390.1:c.1430_1433del	NP_001362319.1:p.Val477AlafsTer4
NM_001375391.1:c.1457_1460del	NP_001362320.1:p.Val486AlafsTer4
NM_001375392.1:c.1346-506_1346-503del	NP_001362321.1:n.1346-506_1346-503del