Canonical Allele Identifier: CA103740657

Gene: EGF

Linked Data

• dbSNP Id: rs978302673
• gnomAD v3: 4-109981108-ATTTG-A
• gnomAD v4: 4-109981108-ATTTG-A
• MyVariant Identifiers: chr4:g.110902265_110902268del (hg19) ; chr4:g.109981109_109981112del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109981116_109981119del , CM000666.2:g.109981116_109981119del	GRCh38
NC_000004.11:g.110902272_110902275del , CM000666.1:g.110902272_110902275del	GRCh37
NC_000004.10:g.111121721_111121724del	NCBI36
NG_011441.1:g.73233_73236del
NG_011441.2:g.73233_73236del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265171.10:c.2371+141_2371+144del MANE Select	ENSP00000265171.5:n.2371+141_2371+144del
ENST00000652245.1:c.2245+141_2245+144del	ENSP00000498337.1:n.2245+141_2245+144del
ENST00000265171.9:c.2371+141_2371+144del	ENSP00000265171.5:n.2371+141_2371+144del
ENST00000503392.1:c.2371+141_2371+144del	ENSP00000421384.1:n.2371+141_2371+144del
ENST00000509793.5:c.2245+141_2245+144del	ENSP00000424316.1:n.2245+141_2245+144del
ENST00000509996.1:n.299+141_299+144del
ENST00000511228.5:n.335+141_335+144del
NM_001178130.1:c.2371+141_2371+144del	NP_001171601.1:n.2371+141_2371+144del
NM_001178131.1:c.2245+141_2245+144del	NP_001171602.1:n.2245+141_2245+144del
NM_001963.4:c.2371+141_2371+144del	NP_001954.2:n.2371+141_2371+144del
XM_005262796.2:c.2371+141_2371+144del	XP_005262853.1:n.2371+141_2371+144del
XM_005262797.2:c.2245+141_2245+144del	XP_005262854.1:n.2245+141_2245+144del
XM_005262798.2:c.2371+141_2371+144del	XP_005262855.1:n.2371+141_2371+144del
XM_005262800.2:c.2371+141_2371+144del	XP_005262857.1:n.2371+141_2371+144del
XM_005262801.2:c.2371+141_2371+144del	XP_005262858.1:n.2371+141_2371+144del
XM_006714124.2:c.2371+141_2371+144del	XP_006714187.1:n.2371+141_2371+144del
XM_011531707.1:c.2260+141_2260+144del	XP_011530009.1:n.2260+141_2260+144del
XM_011531708.1:c.2371+141_2371+144del	XP_011530010.1:n.2371+141_2371+144del
XR_427532.2:n.2824+141_2824+144del
XR_938699.1:n.2824+141_2824+144del
NM_001178130.2:c.2371+141_2371+144del	NP_001171601.1:n.2371+141_2371+144del
NM_001178131.2:c.2245+141_2245+144del	NP_001171602.1:n.2245+141_2245+144del
NM_001357021.1:c.2245+141_2245+144del	NP_001343950.1:n.2245+141_2245+144del
NM_001963.5:c.2371+141_2371+144del	NP_001954.2:n.2371+141_2371+144del
XM_017007845.1:c.2395+141_2395+144del	XP_016863334.1:n.2395+141_2395+144del
XM_017007846.1:c.2395+141_2395+144del	XP_016863335.1:n.2395+141_2395+144del
XM_017007847.1:c.2395+141_2395+144del	XP_016863336.1:n.2395+141_2395+144del
XM_017007848.1:c.2269+141_2269+144del	XP_016863337.1:n.2269+141_2269+144del
XM_017007849.1:c.2395+141_2395+144del	XP_016863338.1:n.2395+141_2395+144del
XM_017007850.1:c.2395+141_2395+144del	XP_016863339.1:n.2395+141_2395+144del
XM_017007851.1:c.2395+141_2395+144del	XP_016863340.1:n.2395+141_2395+144del
XM_017007853.1:c.2395+141_2395+144del	XP_016863342.1:n.2395+141_2395+144del
XR_001741156.1:n.2848+141_2848+144del
XR_001741157.1:n.2848+141_2848+144del
NM_001178130.3:c.2371+141_2371+144del	NP_001171601.1:n.2371+141_2371+144del
NM_001178131.3:c.2245+141_2245+144del	NP_001171602.1:n.2245+141_2245+144del
NM_001357021.2:c.2245+141_2245+144del	NP_001343950.1:n.2245+141_2245+144del
NM_001963.6:c.2371+141_2371+144del MANE Select	NP_001954.2:n.2371+141_2371+144del