Canonical Allele Identifier: CA3043916

Gene: EGF

Linked Data

• dbSNP Id: rs761114061
• ExAC: 4:110901988 ATCCCTGCTTAT / A
• gnomAD v2: 4-110901988-ATCCCTGCTTAT-A
• MyVariant Identifiers: chr4:g.110901989_110901999del (hg19) ; chr4:g.109980833_109980843del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109980833_109980843del , CM000666.2:g.109980833_109980843del	GRCh38
NC_000004.11:g.110901989_110901999del , CM000666.1:g.110901989_110901999del	GRCh37
NC_000004.10:g.111121438_111121448del	NCBI36
NG_011441.1:g.72950_72960del
NG_011441.2:g.72950_72960del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265171.10:c.2229_2239del MANE Select	ENSP00000265171.5:p.Asp743GlufsTer7
ENST00000652245.1:c.2103_2113del	ENSP00000498337.1:p.Asp701GlufsTer7
ENST00000265171.9:c.2229_2239del	ENSP00000265171.5:p.Asp743GlufsTer7
ENST00000503392.1:c.2229_2239del	ENSP00000421384.1:p.Asp743GlufsTer7
ENST00000509793.5:c.2103_2113del	ENSP00000424316.1:p.Asp701GlufsTer7
ENST00000509996.1:n.157_167del
ENST00000511228.5:n.193_203del
NM_001178130.1:c.2229_2239del	NP_001171601.1:p.Asp743GlufsTer7
NM_001178131.1:c.2103_2113del	NP_001171602.1:p.Asp701GlufsTer7
NM_001963.4:c.2229_2239del	NP_001954.2:p.Asp743GlufsTer7
XM_005262796.2:c.2229_2239del	XP_005262853.1:p.Asp743GlufsTer7
XM_005262797.2:c.2103_2113del	XP_005262854.1:p.Asp701GlufsTer7
XM_005262798.2:c.2229_2239del	XP_005262855.1:p.Asp743GlufsTer7
XM_005262800.2:c.2229_2239del	XP_005262857.1:p.Asp743GlufsTer7
XM_005262801.2:c.2229_2239del	XP_005262858.1:p.Asp743GlufsTer7
XM_006714124.2:c.2229_2239del	XP_006714187.1:p.Asp743GlufsTer7
XM_011531707.1:c.2118_2128del	XP_011530009.1:p.Asp706GlufsTer7
XM_011531708.1:c.2229_2239del	XP_011530010.1:p.Asp743GlufsTer7
XR_427532.2:n.2682_2692del
XR_938699.1:n.2682_2692del
NM_001178130.2:c.2229_2239del	NP_001171601.1:p.Asp743GlufsTer7
NM_001178131.2:c.2103_2113del	NP_001171602.1:p.Asp701GlufsTer7
NM_001357021.1:c.2103_2113del	NP_001343950.1:p.Asp701GlufsTer7
NM_001963.5:c.2229_2239del	NP_001954.2:p.Asp743GlufsTer7
XM_017007845.1:c.2253_2263del	XP_016863334.1:p.Asp751GlufsTer7
XM_017007846.1:c.2253_2263del	XP_016863335.1:p.Asp751GlufsTer7
XM_017007847.1:c.2253_2263del	XP_016863336.1:p.Asp751GlufsTer7
XM_017007848.1:c.2127_2137del	XP_016863337.1:p.Asp709GlufsTer7
XM_017007849.1:c.2253_2263del	XP_016863338.1:p.Asp751GlufsTer7
XM_017007850.1:c.2253_2263del	XP_016863339.1:p.Asp751GlufsTer7
XM_017007851.1:c.2253_2263del	XP_016863340.1:p.Asp751GlufsTer7
XM_017007853.1:c.2253_2263del	XP_016863342.1:p.Asp751GlufsTer7
XR_001741156.1:n.2706_2716del
XR_001741157.1:n.2706_2716del
NM_001178130.3:c.2229_2239del	NP_001171601.1:p.Asp743GlufsTer7
NM_001178131.3:c.2103_2113del	NP_001171602.1:p.Asp701GlufsTer7
NM_001357021.2:c.2103_2113del	NP_001343950.1:p.Asp701GlufsTer7
NM_001963.6:c.2229_2239del MANE Select	NP_001954.2:p.Asp743GlufsTer7