Canonical Allele Identifier: CA917276388
Gene: EGF HGNC NCBI

Linked Data

dbSNP Id: rs1578333793

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109981000_109981001del , CM000666.2:g.109981000_109981001del GRCh38
NC_000004.11:g.110902156_110902157del , CM000666.1:g.110902156_110902157del GRCh37
NC_000004.10:g.111121605_111121606del NCBI36
NG_011441.1:g.73117_73118del
NG_011441.2:g.73117_73118del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265171.10:c.2371+25_2371+26del MANE Select ENSP00000265171.5:n.2371+25_2371+26del
ENST00000652245.1:c.2245+25_2245+26del ENSP00000498337.1:n.2245+25_2245+26del
ENST00000265171.9:c.2371+25_2371+26del ENSP00000265171.5:n.2371+25_2371+26del
ENST00000503392.1:c.2371+25_2371+26del ENSP00000421384.1:n.2371+25_2371+26del
ENST00000509793.5:c.2245+25_2245+26del ENSP00000424316.1:n.2245+25_2245+26del
ENST00000509996.1:n.299+25_299+26del
ENST00000511228.5:n.335+25_335+26del
NM_001178130.1:c.2371+25_2371+26del NP_001171601.1:n.2371+25_2371+26del
NM_001178131.1:c.2245+25_2245+26del NP_001171602.1:n.2245+25_2245+26del
NM_001963.4:c.2371+25_2371+26del NP_001954.2:n.2371+25_2371+26del
XM_005262796.2:c.2371+25_2371+26del XP_005262853.1:n.2371+25_2371+26del
XM_005262797.2:c.2245+25_2245+26del XP_005262854.1:n.2245+25_2245+26del
XM_005262798.2:c.2371+25_2371+26del XP_005262855.1:n.2371+25_2371+26del
XM_005262800.2:c.2371+25_2371+26del XP_005262857.1:n.2371+25_2371+26del
XM_005262801.2:c.2371+25_2371+26del XP_005262858.1:n.2371+25_2371+26del
XM_006714124.2:c.2371+25_2371+26del XP_006714187.1:n.2371+25_2371+26del
XM_011531707.1:c.2260+25_2260+26del XP_011530009.1:n.2260+25_2260+26del
XM_011531708.1:c.2371+25_2371+26del XP_011530010.1:n.2371+25_2371+26del
XR_427532.2:n.2824+25_2824+26del
XR_938699.1:n.2824+25_2824+26del
NM_001178130.2:c.2371+25_2371+26del NP_001171601.1:n.2371+25_2371+26del
NM_001178131.2:c.2245+25_2245+26del NP_001171602.1:n.2245+25_2245+26del
NM_001357021.1:c.2245+25_2245+26del NP_001343950.1:n.2245+25_2245+26del
NM_001963.5:c.2371+25_2371+26del NP_001954.2:n.2371+25_2371+26del
XM_017007845.1:c.2395+25_2395+26del XP_016863334.1:n.2395+25_2395+26del
XM_017007846.1:c.2395+25_2395+26del XP_016863335.1:n.2395+25_2395+26del
XM_017007847.1:c.2395+25_2395+26del XP_016863336.1:n.2395+25_2395+26del
XM_017007848.1:c.2269+25_2269+26del XP_016863337.1:n.2269+25_2269+26del
XM_017007849.1:c.2395+25_2395+26del XP_016863338.1:n.2395+25_2395+26del
XM_017007850.1:c.2395+25_2395+26del XP_016863339.1:n.2395+25_2395+26del
XM_017007851.1:c.2395+25_2395+26del XP_016863340.1:n.2395+25_2395+26del
XM_017007853.1:c.2395+25_2395+26del XP_016863342.1:n.2395+25_2395+26del
XR_001741156.1:n.2848+25_2848+26del
XR_001741157.1:n.2848+25_2848+26del
NM_001178130.3:c.2371+25_2371+26del NP_001171601.1:n.2371+25_2371+26del
NM_001178131.3:c.2245+25_2245+26del NP_001171602.1:n.2245+25_2245+26del
NM_001357021.2:c.2245+25_2245+26del NP_001343950.1:n.2245+25_2245+26del
NM_001963.6:c.2371+25_2371+26del MANE Select NP_001954.2:n.2371+25_2371+26del