Canonical Allele Identifier: CA2770531923

Gene: EGFL8 PPT2-EGFL8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164624del , CM000668.2:g.32164624del	GRCh38
NC_000006.11:g.32132401del , CM000668.1:g.32132401del	GRCh37
NC_000006.10:g.32240379del	NCBI36
NG_042283.1:g.16173del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-62del (EGFL8) MANE Select	ENSP00000333380.6:n.-62del
ENST00000333845.10:c.-62del (EGFL8)	ENSP00000333380.6:n.-62del
ENST00000395512.5:c.-86del (EGFL8)	ENSP00000378888.1:n.-86del
ENST00000421600.2:c.270del (PPT2-EGFL8)
ENST00000422437.5:c.811del (PPT2-EGFL8)	ENSP00000457534.1:p.Val271SerfsTer3
ENST00000428388.6:c.811del (PPT2-EGFL8)	ENSP00000455087.1:p.Val271SerfsTer3
ENST00000453656.6:n.942del (PPT2-EGFL8)
ENST00000479001.2:n.796del (PPT2-EGFL8)
ENST00000583227.5:c.*363del (PPT2-EGFL8)	ENSP00000461909.1:n.*363del
ENST00000585246.5:c.*318-1514del (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1514del
NM_030652.3:c.-62del (EGFL8)	NP_085155.1:n.-62del
NR_037860.1:n.20del (EGFL8)
NR_037861.1:n.1225del (PPT2-EGFL8)
NM_030652.4:c.-62del (EGFL8) MANE Select	NP_085155.1:n.-62del
NR_037860.2:n.30del (EGFL8)