Canonical Allele Identifier: CA1484838530

Gene: EGF

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110004453_110004457delinsCTGAG , CM000666.2:g.110004453_110004457delinsCTGAG	GRCh38
NC_000004.11:g.110925609_110925613delinsCTGAG , CM000666.1:g.110925609_110925613delinsCTGAG	GRCh37
NC_000004.10:g.111145058_111145062delinsCTGAG	NCBI36
NG_011441.1:g.96570_96574delinsCTGAG
NG_011441.2:g.96570_96574delinsCTGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000265171.10:c.3174-52_3174-48delinsCTGAG MANE Select	ENSP00000265171.5:n.3174-52_3174-48delins...
ENST00000652245.1:c.2805-52_2805-48delinsCTGAG	ENSP00000498337.1:n.2805-52_2805-48delins...
ENST00000265171.9:c.3174-52_3174-48delinsCTGAG	ENSP00000265171.5:n.3174-52_3174-48delins...
ENST00000503392.1:c.3051-52_3051-48delinsCTGAG	ENSP00000421384.1:n.3051-52_3051-48delins...
ENST00000509793.5:c.3048-52_3048-48delinsCTGAG	ENSP00000424316.1:n.3048-52_3048-48delins...
ENST00000509996.1:n.859-52_859-48delinsCTGAG
ENST00000544918.1:n.207_211delinsCTGAG
NM_001178130.1:c.3051-52_3051-48delinsCTGAG	NP_001171601.1:n.3051-52_3051-48delinsCTG...
NM_001178131.1:c.3048-52_3048-48delinsCTGAG	NP_001171602.1:n.3048-52_3048-48delinsCTG...
NM_001963.4:c.3174-52_3174-48delinsCTGAG	NP_001954.2:n.3174-52_3174-48delinsCTGAG
XM_005262796.2:c.3174-52_3174-48delinsCTGAG	XP_005262853.1:n.3174-52_3174-48delinsCTG...
XM_005262797.2:c.3048-52_3048-48delinsCTGAG	XP_005262854.1:n.3048-52_3048-48delinsCTG...
XM_005262798.2:c.2931-52_2931-48delinsCTGAG	XP_005262855.1:n.2931-52_2931-48delinsCTG...
XM_005262800.2:c.2931-52_2931-48delinsCTGAG	XP_005262857.1:n.2931-52_2931-48delinsCTG...
XM_005262801.2:c.2492-6749_2492-6745delinsCTGAG	XP_005262858.1:n.2492-6749_2492-6745delin...
XM_006714124.2:c.3174-52_3174-48delinsCTGAG	XP_006714187.1:n.3174-52_3174-48delinsCTG...
XM_011531707.1:c.3063-52_3063-48delinsCTGAG	XP_011530009.1:n.3063-52_3063-48delinsCTG...
XR_427532.2:n.3188-52_3188-48delinsCTGAG
XR_938699.1:n.3188-52_3188-48delinsCTGAG
NM_001178130.2:c.3051-52_3051-48delinsCTGAG	NP_001171601.1:n.3051-52_3051-48delinsCTG...
NM_001178131.2:c.3048-52_3048-48delinsCTGAG	NP_001171602.1:n.3048-52_3048-48delinsCTG...
NM_001357021.1:c.2805-52_2805-48delinsCTGAG	NP_001343950.1:n.2805-52_2805-48delinsCTG...
NM_001963.5:c.3174-52_3174-48delinsCTGAG	NP_001954.2:n.3174-52_3174-48delinsCTGAG
XM_017007845.1:c.3198-52_3198-48delinsCTGAG	XP_016863334.1:n.3198-52_3198-48delinsCTG...
XM_017007846.1:c.3198-52_3198-48delinsCTGAG	XP_016863335.1:n.3198-52_3198-48delinsCTG...
XM_017007847.1:c.3075-52_3075-48delinsCTGAG	XP_016863336.1:n.3075-52_3075-48delinsCTG...
XM_017007848.1:c.3072-52_3072-48delinsCTGAG	XP_016863337.1:n.3072-52_3072-48delinsCTG...
XM_017007849.1:c.2955-52_2955-48delinsCTGAG	XP_016863338.1:n.2955-52_2955-48delinsCTG...
XM_017007850.1:c.3198-52_3198-48delinsCTGAG	XP_016863339.1:n.3198-52_3198-48delinsCTG...
XM_017007851.1:c.2955-52_2955-48delinsCTGAG	XP_016863340.1:n.2955-52_2955-48delinsCTG...
XR_001741156.1:n.3212-52_3212-48delinsCTGAG
XR_001741157.1:n.3212-52_3212-48delinsCTGAG
NM_001178130.3:c.3051-52_3051-48delinsCTGAG	NP_001171601.1:n.3051-52_3051-48delinsCTG...
NM_001178131.3:c.3048-52_3048-48delinsCTGAG	NP_001171602.1:n.3048-52_3048-48delinsCTG...
NM_001357021.2:c.2805-52_2805-48delinsCTGAG	NP_001343950.1:n.2805-52_2805-48delinsCTG...
NM_001963.6:c.3174-52_3174-48delinsCTGAG MANE Select	NP_001954.2:n.3174-52_3174-48delinsCTGAG