Canonical Allele Identifier: CA2671756640

Gene: EGF

Linked Data

• gnomAD v4: 4-110011676-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110011678del , CM000666.2:g.110011678del	GRCh38
NC_000004.11:g.110932834del , CM000666.1:g.110932834del	GRCh37
NC_000004.10:g.111152283del	NCBI36
NG_011441.1:g.103795del
NG_011441.2:g.103795del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265171.10:c.*223del MANE Select	ENSP00000265171.5:n.*223del
ENST00000652245.1:c.*366del	ENSP00000498337.1:n.*366del
ENST00000265171.9:c.*223del	ENSP00000265171.5:n.*223del
ENST00000509793.5:c.*223del	ENSP00000424316.1:n.*223del
ENST00000509996.1:n.1453del
ENST00000540840.1:n.229+370del
NM_001178130.1:c.*223del	NP_001171601.1:n.*223del
NM_001178131.1:c.*223del	NP_001171602.1:n.*223del
NM_001963.4:c.*223del	NP_001954.2:n.*223del
XM_005262796.2:c.*223del	XP_005262853.1:n.*223del
XM_005262797.2:c.*223del	XP_005262854.1:n.*223del
XM_005262798.2:c.*223del	XP_005262855.1:n.*223del
XM_005262800.2:c.*366del	XP_005262857.1:n.*366del
XM_005262801.2:c.*223del	XP_005262858.1:n.*223del
XM_006714124.2:c.*366del	XP_006714187.1:n.*366del
XM_011531707.1:c.*223del	XP_011530009.1:n.*223del
NM_001178130.2:c.*223del	NP_001171601.1:n.*223del
NM_001178131.2:c.*223del	NP_001171602.1:n.*223del
NM_001357021.1:c.*366del	NP_001343950.1:n.*366del
NM_001963.5:c.*223del	NP_001954.2:n.*223del
XM_017007845.1:c.*223del	XP_016863334.1:n.*223del
XM_017007846.1:c.*223del	XP_016863335.1:n.*223del
XM_017007847.1:c.*223del	XP_016863336.1:n.*223del
XM_017007848.1:c.*223del	XP_016863337.1:n.*223del
XM_017007849.1:c.*223del	XP_016863338.1:n.*223del
XM_017007850.1:c.*366del	XP_016863339.1:n.*366del
XM_017007851.1:c.*366del	XP_016863340.1:n.*366del
NM_001178130.3:c.*223del	NP_001171601.1:n.*223del
NM_001178131.3:c.*223del	NP_001171602.1:n.*223del
NM_001357021.2:c.*366del	NP_001343950.1:n.*366del
NM_001963.6:c.*223del MANE Select	NP_001954.2:n.*223del