Canonical Allele Identifier: CA2770531927

Gene: EGFL8 PPT2-EGFL8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164784_32164786del , CM000668.2:g.32164784_32164786del	GRCh38
NC_000006.11:g.32132561_32132563del , CM000668.1:g.32132561_32132563del	GRCh37
NC_000006.10:g.32240539_32240541del	NCBI36
NG_042283.1:g.16333_16335del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-29+127_-29+129del (EGFL8) MANE Select	ENSP00000333380.6:n.-29+127_-29+129del
ENST00000333845.10:c.-29+127_-29+129del (EGFL8)	ENSP00000333380.6:n.-29+127_-29+129del
ENST00000395512.5:c.-29+103_-29+105del (EGFL8)	ENSP00000378888.1:n.-29+103_-29+105del
ENST00000421600.2:c.327+103_327+105del (PPT2-EGFL8)
ENST00000422437.5:c.844+127_844+129del (PPT2-EGFL8)	ENSP00000457534.1:n.844+127_844+129del
ENST00000428388.6:c.844+127_844+129del (PPT2-EGFL8)	ENSP00000455087.1:n.844+127_844+129del
ENST00000432129.1:c.-29+103_-29+105del (EGFL8)	ENSP00000401694.1:n.-29+103_-29+105del
ENST00000453656.6:n.975+127_975+129del (PPT2-EGFL8)
ENST00000479001.2:n.829+127_829+129del (PPT2-EGFL8)
ENST00000583227.5:c.*396+127_*396+129del (PPT2-EGFL8)	ENSP00000461909.1:n.*396+127_*396+129del
ENST00000585246.5:c.*318-1354_*318-1352del (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1354_*318-1352del
NM_030652.3:c.-29+127_-29+129del (EGFL8)	NP_085155.1:n.-29+127_-29+129del
NR_037860.1:n.77+103_77+105del (EGFL8)
NR_037861.1:n.1258+127_1258+129del (PPT2-EGFL8)
NM_030652.4:c.-29+127_-29+129del (EGFL8) MANE Select	NP_085155.1:n.-29+127_-29+129del
NR_037860.2:n.87+103_87+105del (EGFL8)