Canonical Allele Identifier: CA2671756215

Gene: EGF

Linked Data

• gnomAD v4: 4-110004554-A-AGGAGAGATGTGAGGAGTCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110004555_110004556insGAGAGATGTGAGGAGTCGCG , CM000666.2:g.110004555_110004556insGAGAGATGTGAGGAGTCGCG	GRCh38
NC_000004.11:g.110925711_110925712insGAGAGATGTGAGGAGTCGCG , CM000666.1:g.110925711_110925712insGAGAGATGTGAGGAGTCGCG	GRCh37
NC_000004.10:g.111145160_111145161insGAGAGATGTGAGGAGTCGCG	NCBI36
NG_011441.1:g.96672_96673insGAGAGATGTGAGGAGTCGCG
NG_011441.2:g.96672_96673insGAGAGATGTGAGGAGTCGCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000265171.10:c.3224_3225insGAGAGATGTGAGGAGTCGCG MANE Select	ENSP00000265171.5:p.Ser1075ArgfsTer11
ENST00000652245.1:c.2855_2856insGAGAGATGTGAGGAGTCGCG	ENSP00000498337.1:p.Ser952ArgfsTer11
ENST00000265171.9:c.3224_3225insGAGAGATGTGAGGAGTCGCG	ENSP00000265171.5:p.Ser1075ArgfsTer11
ENST00000503392.1:c.3101_3102insGAGAGATGTGAGGAGTCGCG	ENSP00000421384.1:p.Ser1034ArgfsTer11
ENST00000509793.5:c.3098_3099insGAGAGATGTGAGGAGTCGCG	ENSP00000424316.1:p.Ser1033ArgfsTer11
ENST00000509996.1:n.909_910insGAGAGATGTGAGGAGTCGCG
ENST00000537316.5:n.55_56insGAGAGATGTGAGGAGTCGCG
ENST00000540840.1:n.55_56insGAGAGATGTGAGGAGTCGCG
ENST00000544918.1:n.309_310insGAGAGATGTGAGGAGTCGCG
NM_001178130.1:c.3101_3102insGAGAGATGTGAGGAGTCGCG	NP_001171601.1:p.Ser1034ArgfsTer11
NM_001178131.1:c.3098_3099insGAGAGATGTGAGGAGTCGCG	NP_001171602.1:p.Ser1033ArgfsTer11
NM_001963.4:c.3224_3225insGAGAGATGTGAGGAGTCGCG	NP_001954.2:p.Ser1075ArgfsTer11
XM_005262796.2:c.3224_3225insGAGAGATGTGAGGAGTCGCG	XP_005262853.1:p.Ser1075ArgfsTer11
XM_005262797.2:c.3098_3099insGAGAGATGTGAGGAGTCGCG	XP_005262854.1:p.Ser1033ArgfsTer11
XM_005262798.2:c.2981_2982insGAGAGATGTGAGGAGTCGCG	XP_005262855.1:p.Ser994ArgfsTer11
XM_005262800.2:c.2981_2982insGAGAGATGTGAGGAGTCGCG	XP_005262857.1:p.Ser994ArgfsTer11
XM_005262801.2:c.2492-6647_2492-6646insGAGAGATGTGAGGAGTCGCG	XP_005262858.1:n.2492-6647_2492-6646insGAGAGATGTGAGGAGTCGCG
XM_006714124.2:c.3224_3225insGAGAGATGTGAGGAGTCGCG	XP_006714187.1:p.Ser1075ArgfsTer11
XM_011531707.1:c.3113_3114insGAGAGATGTGAGGAGTCGCG	XP_011530009.1:p.Ser1038ArgfsTer11
XR_427532.2:n.3238_3239insGAGAGATGTGAGGAGTCGCG
XR_938699.1:n.3238_3239insGAGAGATGTGAGGAGTCGCG
NM_001178130.2:c.3101_3102insGAGAGATGTGAGGAGTCGCG	NP_001171601.1:p.Ser1034ArgfsTer11
NM_001178131.2:c.3098_3099insGAGAGATGTGAGGAGTCGCG	NP_001171602.1:p.Ser1033ArgfsTer11
NM_001357021.1:c.2855_2856insGAGAGATGTGAGGAGTCGCG	NP_001343950.1:p.Ser952ArgfsTer11
NM_001963.5:c.3224_3225insGAGAGATGTGAGGAGTCGCG	NP_001954.2:p.Ser1075ArgfsTer11
XM_017007845.1:c.3248_3249insGAGAGATGTGAGGAGTCGCG	XP_016863334.1:p.Ser1083ArgfsTer11
XM_017007846.1:c.3248_3249insGAGAGATGTGAGGAGTCGCG	XP_016863335.1:p.Ser1083ArgfsTer11
XM_017007847.1:c.3125_3126insGAGAGATGTGAGGAGTCGCG	XP_016863336.1:p.Ser1042ArgfsTer11
XM_017007848.1:c.3122_3123insGAGAGATGTGAGGAGTCGCG	XP_016863337.1:p.Ser1041ArgfsTer11
XM_017007849.1:c.3005_3006insGAGAGATGTGAGGAGTCGCG	XP_016863338.1:p.Ser1002ArgfsTer11
XM_017007850.1:c.3248_3249insGAGAGATGTGAGGAGTCGCG	XP_016863339.1:p.Ser1083ArgfsTer11
XM_017007851.1:c.3005_3006insGAGAGATGTGAGGAGTCGCG	XP_016863340.1:p.Ser1002ArgfsTer11
XR_001741156.1:n.3262_3263insGAGAGATGTGAGGAGTCGCG
XR_001741157.1:n.3262_3263insGAGAGATGTGAGGAGTCGCG
NM_001178130.3:c.3101_3102insGAGAGATGTGAGGAGTCGCG	NP_001171601.1:p.Ser1034ArgfsTer11
NM_001178131.3:c.3098_3099insGAGAGATGTGAGGAGTCGCG	NP_001171602.1:p.Ser1033ArgfsTer11
NM_001357021.2:c.2855_2856insGAGAGATGTGAGGAGTCGCG	NP_001343950.1:p.Ser952ArgfsTer11
NM_001963.6:c.3224_3225insGAGAGATGTGAGGAGTCGCG MANE Select	NP_001954.2:p.Ser1075ArgfsTer11