Canonical Allele Identifier: CA2671752643

Gene: EGF

Linked Data

• gnomAD v4: 4-109945286-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109945286_109945287insAA , CM000666.2:g.109945286_109945287insAA	GRCh38
NC_000004.11:g.110866442_110866443insAA , CM000666.1:g.110866442_110866443insAA	GRCh37
NC_000004.10:g.111085891_111085892insAA	NCBI36
NG_011441.1:g.37403_37404insAA
NG_011441.2:g.37403_37404insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265171.10:c.940+11_940+12insAA MANE Select	ENSP00000265171.5:n.940+11_940+12insAA
ENST00000652245.1:c.940+11_940+12insAA	ENSP00000498337.1:n.940+11_940+12insAA
ENST00000265171.9:c.940+11_940+12insAA	ENSP00000265171.5:n.940+11_940+12insAA
ENST00000503392.1:c.940+11_940+12insAA	ENSP00000421384.1:n.940+11_940+12insAA
ENST00000509793.5:c.940+11_940+12insAA	ENSP00000424316.1:n.940+11_940+12insAA
NM_001178130.1:c.940+11_940+12insAA	NP_001171601.1:n.940+11_940+12insAA
NM_001178131.1:c.940+11_940+12insAA	NP_001171602.1:n.940+11_940+12insAA
NM_001963.4:c.940+11_940+12insAA	NP_001954.2:n.940+11_940+12insAA
XM_005262796.2:c.940+11_940+12insAA	XP_005262853.1:n.940+11_940+12insAA
XM_005262797.2:c.940+11_940+12insAA	XP_005262854.1:n.940+11_940+12insAA
XM_005262798.2:c.940+11_940+12insAA	XP_005262855.1:n.940+11_940+12insAA
XM_005262800.2:c.940+11_940+12insAA	XP_005262857.1:n.940+11_940+12insAA
XM_005262801.2:c.940+11_940+12insAA	XP_005262858.1:n.940+11_940+12insAA
XM_005262802.2:c.940+11_940+12insAA	XP_005262859.1:n.940+11_940+12insAA
XM_006714124.2:c.940+11_940+12insAA	XP_006714187.1:n.940+11_940+12insAA
XM_011531707.1:c.829+11_829+12insAA	XP_011530009.1:n.829+11_829+12insAA
XM_011531708.1:c.940+11_940+12insAA	XP_011530010.1:n.940+11_940+12insAA
XM_011531709.1:c.940+11_940+12insAA	XP_011530011.1:n.940+11_940+12insAA
XR_427532.2:n.1393+11_1393+12insAA
XR_938699.1:n.1393+11_1393+12insAA
NM_001178130.2:c.940+11_940+12insAA	NP_001171601.1:n.940+11_940+12insAA
NM_001178131.2:c.940+11_940+12insAA	NP_001171602.1:n.940+11_940+12insAA
NM_001357021.1:c.940+11_940+12insAA	NP_001343950.1:n.940+11_940+12insAA
NM_001963.5:c.940+11_940+12insAA	NP_001954.2:n.940+11_940+12insAA
XM_017007845.1:c.964+11_964+12insAA	XP_016863334.1:n.964+11_964+12insAA
XM_017007846.1:c.964+11_964+12insAA	XP_016863335.1:n.964+11_964+12insAA
XM_017007847.1:c.964+11_964+12insAA	XP_016863336.1:n.964+11_964+12insAA
XM_017007848.1:c.964+11_964+12insAA	XP_016863337.1:n.964+11_964+12insAA
XM_017007849.1:c.964+11_964+12insAA	XP_016863338.1:n.964+11_964+12insAA
XM_017007850.1:c.964+11_964+12insAA	XP_016863339.1:n.964+11_964+12insAA
XM_017007851.1:c.964+11_964+12insAA	XP_016863340.1:n.964+11_964+12insAA
XM_017007853.1:c.964+11_964+12insAA	XP_016863342.1:n.964+11_964+12insAA
XM_017007854.1:c.964+11_964+12insAA	XP_016863343.1:n.964+11_964+12insAA
XM_017007855.1:c.964+11_964+12insAA	XP_016863344.1:n.964+11_964+12insAA
XR_001741156.1:n.1417+11_1417+12insAA
XR_001741157.1:n.1417+11_1417+12insAA
NM_001178130.3:c.940+11_940+12insAA	NP_001171601.1:n.940+11_940+12insAA
NM_001178131.3:c.940+11_940+12insAA	NP_001171602.1:n.940+11_940+12insAA
NM_001357021.2:c.940+11_940+12insAA	NP_001343950.1:n.940+11_940+12insAA
NM_001963.6:c.940+11_940+12insAA MANE Select	NP_001954.2:n.940+11_940+12insAA