Canonical Allele Identifier: CA2671756214

Gene: EGF

Linked Data

• gnomAD v4: 4-110004543-A-ATGAGGAGTCGAGCAGAGATG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110004554_110004573dup , CM000666.2:g.110004554_110004573dup	GRCh38
NC_000004.11:g.110925710_110925729dup , CM000666.1:g.110925710_110925729dup	GRCh37
NC_000004.10:g.111145159_111145178dup	NCBI36
NG_011441.1:g.96671_96690dup
NG_011441.2:g.96671_96690dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000265171.10:c.3223_3242dup MANE Select	ENSP00000265171.5:p.Arg1082AlafsTer4
ENST00000652245.1:c.2854_2873dup	ENSP00000498337.1:p.Arg959AlafsTer4
ENST00000265171.9:c.3223_3242dup	ENSP00000265171.5:p.Arg1082AlafsTer4
ENST00000503392.1:c.3100_3119dup	ENSP00000421384.1:p.Arg1041AlafsTer4
ENST00000509793.5:c.3097_3116dup	ENSP00000424316.1:p.Arg1040AlafsTer4
ENST00000509996.1:n.908_927dup
ENST00000537316.5:n.54_73dup
ENST00000540840.1:n.54_73dup
ENST00000544918.1:n.308_327dup
NM_001178130.1:c.3100_3119dup	NP_001171601.1:p.Arg1041AlafsTer4
NM_001178131.1:c.3097_3116dup	NP_001171602.1:p.Arg1040AlafsTer4
NM_001963.4:c.3223_3242dup	NP_001954.2:p.Arg1082AlafsTer4
XM_005262796.2:c.3223_3242dup	XP_005262853.1:p.Arg1082AlafsTer4
XM_005262797.2:c.3097_3116dup	XP_005262854.1:p.Arg1040AlafsTer4
XM_005262798.2:c.2980_2999dup	XP_005262855.1:p.Arg1001AlafsTer4
XM_005262800.2:c.2980_2999dup	XP_005262857.1:p.Arg1001AlafsTer4
XM_005262801.2:c.2492-6648_2492-6629dup	XP_005262858.1:n.2492-6648_2492-6629dup
XM_006714124.2:c.3223_3242dup	XP_006714187.1:p.Arg1082AlafsTer4
XM_011531707.1:c.3112_3131dup	XP_011530009.1:p.Arg1045AlafsTer4
XR_427532.2:n.3237_3256dup
XR_938699.1:n.3237_3256dup
NM_001178130.2:c.3100_3119dup	NP_001171601.1:p.Arg1041AlafsTer4
NM_001178131.2:c.3097_3116dup	NP_001171602.1:p.Arg1040AlafsTer4
NM_001357021.1:c.2854_2873dup	NP_001343950.1:p.Arg959AlafsTer4
NM_001963.5:c.3223_3242dup	NP_001954.2:p.Arg1082AlafsTer4
XM_017007845.1:c.3247_3266dup	XP_016863334.1:p.Arg1090AlafsTer4
XM_017007846.1:c.3247_3266dup	XP_016863335.1:p.Arg1090AlafsTer4
XM_017007847.1:c.3124_3143dup	XP_016863336.1:p.Arg1049AlafsTer4
XM_017007848.1:c.3121_3140dup	XP_016863337.1:p.Arg1048AlafsTer4
XM_017007849.1:c.3004_3023dup	XP_016863338.1:p.Arg1009AlafsTer4
XM_017007850.1:c.3247_3266dup	XP_016863339.1:p.Arg1090AlafsTer4
XM_017007851.1:c.3004_3023dup	XP_016863340.1:p.Arg1009AlafsTer4
XR_001741156.1:n.3261_3280dup
XR_001741157.1:n.3261_3280dup
NM_001178130.3:c.3100_3119dup	NP_001171601.1:p.Arg1041AlafsTer4
NM_001178131.3:c.3097_3116dup	NP_001171602.1:p.Arg1040AlafsTer4
NM_001357021.2:c.2854_2873dup	NP_001343950.1:p.Arg959AlafsTer4
NM_001963.6:c.3223_3242dup MANE Select	NP_001954.2:p.Arg1082AlafsTer4