Canonical Allele Identifier: CA2739270252
Gene: EGF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109993271_109993272delinsTA , CM000666.2:g.109993271_109993272delinsTA GRCh38
NC_000004.11:g.110914427_110914428delinsTA , CM000666.1:g.110914427_110914428delinsTA GRCh37
NC_000004.10:g.111133876_111133877delinsTA NCBI36
NG_011441.1:g.85388_85389delinsTA
NG_011441.2:g.85388_85389delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265171.10:c.2759_2760delinsTA MANE Select ENSP00000265171.5:p.Glu920Val
ENST00000652245.1:c.2390_2391delinsTA ENSP00000498337.1:p.Glu797Val
ENST00000265171.9:c.2759_2760delinsTA ENSP00000265171.5:p.Glu920Val
ENST00000503392.1:c.2735-1462_2735-1461delinsTA ENSP00000421384.1:n.2735-1462_2735-1461delinsTA
ENST00000509793.5:c.2633_2634delinsTA ENSP00000424316.1:p.Glu878Val
ENST00000509996.1:n.444_445delinsTA
NM_001178130.1:c.2735-1462_2735-1461delinsTA NP_001171601.1:n.2735-1462_2735-1461delinsTA
NM_001178131.1:c.2633_2634delinsTA NP_001171602.1:p.Glu878Val
NM_001963.4:c.2759_2760delinsTA NP_001954.2:p.Glu920Val
XM_005262796.2:c.2759_2760delinsTA XP_005262853.1:p.Glu920Val
XM_005262797.2:c.2633_2634delinsTA XP_005262854.1:p.Glu878Val
XM_005262798.2:c.2516_2517delinsTA XP_005262855.1:p.Glu839Val
XM_005262800.2:c.2516_2517delinsTA XP_005262857.1:p.Glu839Val
XM_005262801.2:c.2491+9730_2491+9731delinsTA XP_005262858.1:n.2491+9730_2491+9731delinsTA
XM_006714124.2:c.2759_2760delinsTA XP_006714187.1:p.Glu920Val
XM_011531707.1:c.2648_2649delinsTA XP_011530009.1:p.Glu883Val
XM_011531708.1:c.2734+4562_2734+4563delinsTA XP_011530010.1:n.2734+4562_2734+4563delinsTA
XR_427532.2:n.3187+4562_3187+4563delinsTA
XR_938699.1:n.3187+4562_3187+4563delinsTA
NM_001178130.2:c.2735-1462_2735-1461delinsTA NP_001171601.1:n.2735-1462_2735-1461delinsTA
NM_001178131.2:c.2633_2634delinsTA NP_001171602.1:p.Glu878Val
NM_001357021.1:c.2390_2391delinsTA NP_001343950.1:p.Glu797Val
NM_001963.5:c.2759_2760delinsTA NP_001954.2:p.Glu920Val
XM_017007845.1:c.2783_2784delinsTA XP_016863334.1:p.Glu928Val
XM_017007846.1:c.2783_2784delinsTA XP_016863335.1:p.Glu928Val
XM_017007847.1:c.2759-1462_2759-1461delinsTA XP_016863336.1:n.2759-1462_2759-1461delinsTA
XM_017007848.1:c.2657_2658delinsTA XP_016863337.1:p.Glu886Val
XM_017007849.1:c.2540_2541delinsTA XP_016863338.1:p.Glu847Val
XM_017007850.1:c.2783_2784delinsTA XP_016863339.1:p.Glu928Val
XM_017007851.1:c.2540_2541delinsTA XP_016863340.1:p.Glu847Val
XM_017007853.1:c.2758+4562_2758+4563delinsTA XP_016863342.1:n.2758+4562_2758+4563delinsTA
XR_001741156.1:n.3211+4562_3211+4563delinsTA
XR_001741157.1:n.3211+4562_3211+4563delinsTA
NM_001178130.3:c.2735-1462_2735-1461delinsTA NP_001171601.1:n.2735-1462_2735-1461delinsTA
NM_001178131.3:c.2633_2634delinsTA NP_001171602.1:p.Glu878Val
NM_001357021.2:c.2390_2391delinsTA NP_001343950.1:p.Glu797Val
NM_001963.6:c.2759_2760delinsTA MANE Select NP_001954.2:p.Glu920Val