Canonical Allele Identifier: CA2671753217

Gene: EGF

Linked Data

• gnomAD v4: 4-109961978-A-ATCT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109961979_109961980insCTT , CM000666.2:g.109961979_109961980insCTT	GRCh38
NC_000004.11:g.110883135_110883136insCTT , CM000666.1:g.110883135_110883136insCTT	GRCh37
NC_000004.10:g.111102584_111102585insCTT	NCBI36
NG_011441.1:g.54096_54097insCTT
NG_011441.2:g.54096_54097insCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000265171.10:c.1306_1307insCTT MANE Select	ENSP00000265171.5:p.Thr435_Cys436insSer
ENST00000652245.1:c.1180_1181insCTT	ENSP00000498337.1:p.Thr393_Cys394insSer
ENST00000265171.9:c.1306_1307insCTT	ENSP00000265171.5:p.Thr435_Cys436insSer
ENST00000503392.1:c.1306_1307insCTT	ENSP00000421384.1:p.Thr435_Cys436insSer
ENST00000504633.1:n.544_545insCTT
ENST00000509793.5:c.1180_1181insCTT	ENSP00000424316.1:p.Thr393_Cys394insSer
NM_001178130.1:c.1306_1307insCTT	NP_001171601.1:p.Thr435_Cys436insSer
NM_001178131.1:c.1180_1181insCTT	NP_001171602.1:p.Thr393_Cys394insSer
NM_001963.4:c.1306_1307insCTT	NP_001954.2:p.Thr435_Cys436insSer
XM_005262796.2:c.1306_1307insCTT	XP_005262853.1:p.Thr435_Cys436insSer
XM_005262797.2:c.1180_1181insCTT	XP_005262854.1:p.Thr393_Cys394insSer
XM_005262798.2:c.1306_1307insCTT	XP_005262855.1:p.Thr435_Cys436insSer
XM_005262800.2:c.1306_1307insCTT	XP_005262857.1:p.Thr435_Cys436insSer
XM_005262801.2:c.1306_1307insCTT	XP_005262858.1:p.Thr435_Cys436insSer
XM_005262802.2:c.1306_1307insCTT	XP_005262859.1:p.Thr435_Cys436insSer
XM_006714124.2:c.1306_1307insCTT	XP_006714187.1:p.Thr435_Cys436insSer
XM_011531707.1:c.1195_1196insCTT	XP_011530009.1:p.Thr398_Cys399insSer
XM_011531708.1:c.1306_1307insCTT	XP_011530010.1:p.Thr435_Cys436insSer
XM_011531709.1:c.1306_1307insCTT	XP_011530011.1:p.Thr435_Cys436insSer
XR_427532.2:n.1759_1760insCTT
XR_938699.1:n.1759_1760insCTT
NM_001178130.2:c.1306_1307insCTT	NP_001171601.1:p.Thr435_Cys436insSer
NM_001178131.2:c.1180_1181insCTT	NP_001171602.1:p.Thr393_Cys394insSer
NM_001357021.1:c.1180_1181insCTT	NP_001343950.1:p.Thr393_Cys394insSer
NM_001963.5:c.1306_1307insCTT	NP_001954.2:p.Thr435_Cys436insSer
XM_017007845.1:c.1330_1331insCTT	XP_016863334.1:p.Thr443_Cys444insSer
XM_017007846.1:c.1330_1331insCTT	XP_016863335.1:p.Thr443_Cys444insSer
XM_017007847.1:c.1330_1331insCTT	XP_016863336.1:p.Thr443_Cys444insSer
XM_017007848.1:c.1204_1205insCTT	XP_016863337.1:p.Thr401_Cys402insSer
XM_017007849.1:c.1330_1331insCTT	XP_016863338.1:p.Thr443_Cys444insSer
XM_017007850.1:c.1330_1331insCTT	XP_016863339.1:p.Thr443_Cys444insSer
XM_017007851.1:c.1330_1331insCTT	XP_016863340.1:p.Thr443_Cys444insSer
XM_017007853.1:c.1330_1331insCTT	XP_016863342.1:p.Thr443_Cys444insSer
XM_017007854.1:c.1330_1331insCTT	XP_016863343.1:p.Thr443_Cys444insSer
XM_017007855.1:c.1330_1331insCTT	XP_016863344.1:p.Thr443_Cys444insSer
XR_001741156.1:n.1783_1784insCTT
XR_001741157.1:n.1783_1784insCTT
NM_001178130.3:c.1306_1307insCTT	NP_001171601.1:p.Thr435_Cys436insSer
NM_001178131.3:c.1180_1181insCTT	NP_001171602.1:p.Thr393_Cys394insSer
NM_001357021.2:c.1180_1181insCTT	NP_001343950.1:p.Thr393_Cys394insSer
NM_001963.6:c.1306_1307insCTT MANE Select	NP_001954.2:p.Thr435_Cys436insSer