Canonical Allele Identifier: CA2770531926

Gene: EGFL8 PPT2-EGFL8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164782_32164784dup , CM000668.2:g.32164782_32164784dup	GRCh38
NC_000006.11:g.32132559_32132561dup , CM000668.1:g.32132559_32132561dup	GRCh37
NC_000006.10:g.32240537_32240539dup	NCBI36
NG_042283.1:g.16331_16333dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-29+125_-29+127dup (EGFL8) MANE Select	ENSP00000333380.6:n.-29+125_-29+127dup
ENST00000333845.10:c.-29+125_-29+127dup (EGFL8)	ENSP00000333380.6:n.-29+125_-29+127dup
ENST00000395512.5:c.-29+101_-29+103dup (EGFL8)	ENSP00000378888.1:n.-29+101_-29+103dup
ENST00000421600.2:c.327+101_327+103dup (PPT2-EGFL8)
ENST00000422437.5:c.844+125_844+127dup (PPT2-EGFL8)	ENSP00000457534.1:n.844+125_844+127dup
ENST00000428388.6:c.844+125_844+127dup (PPT2-EGFL8)	ENSP00000455087.1:n.844+125_844+127dup
ENST00000432129.1:c.-29+101_-29+103dup (EGFL8)	ENSP00000401694.1:n.-29+101_-29+103dup
ENST00000453656.6:n.975+125_975+127dup (PPT2-EGFL8)
ENST00000479001.2:n.829+125_829+127dup (PPT2-EGFL8)
ENST00000583227.5:c.*396+125_*396+127dup (PPT2-EGFL8)	ENSP00000461909.1:n.*396+125_*396+127dup
ENST00000585246.5:c.*318-1356_*318-1354dup (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1356_*318-1354dup
NM_030652.3:c.-29+125_-29+127dup (EGFL8)	NP_085155.1:n.-29+125_-29+127dup
NR_037860.1:n.77+101_77+103dup (EGFL8)
NR_037861.1:n.1258+125_1258+127dup (PPT2-EGFL8)
NM_030652.4:c.-29+125_-29+127dup (EGFL8) MANE Select	NP_085155.1:n.-29+125_-29+127dup
NR_037860.2:n.87+101_87+103dup (EGFL8)