Canonical Allele Identifier: CA1619449986

Gene: EGFL8 PPT2-EGFL8

Linked Data

• dbSNP Id: rs1784362956
• gnomAD v4: 6-32164647-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164651_32164653del , CM000668.2:g.32164651_32164653del	GRCh38
NC_000006.11:g.32132428_32132430del , CM000668.1:g.32132428_32132430del	GRCh37
NC_000006.10:g.32240406_32240408del	NCBI36
NG_042283.1:g.16200_16202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-35_-33del (EGFL8) MANE Select	ENSP00000333380.6:n.-35_-33del
ENST00000333845.10:c.-35_-33del (EGFL8)	ENSP00000333380.6:n.-35_-33del
ENST00000395512.5:c.-59_-57del (EGFL8)	ENSP00000378888.1:n.-59_-57del
ENST00000421600.2:c.297_299del (PPT2-EGFL8)
ENST00000422437.5:c.838_840del (PPT2-EGFL8)	ENSP00000457534.1:p.Lys280del
ENST00000428388.6:c.838_840del (PPT2-EGFL8)	ENSP00000455087.1:p.Lys280del
ENST00000453656.6:n.969_971del (PPT2-EGFL8)
ENST00000479001.2:n.823_825del (PPT2-EGFL8)
ENST00000583227.5:c.*390_*392del (PPT2-EGFL8)	ENSP00000461909.1:n.*390_*392del
ENST00000585246.5:c.*318-1487_*318-1485del (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1487_*318-1485del
NM_030652.3:c.-35_-33del (EGFL8)	NP_085155.1:n.-35_-33del
NR_037860.1:n.47_49del (EGFL8)
NR_037861.1:n.1252_1254del (PPT2-EGFL8)
NM_030652.4:c.-35_-33del (EGFL8) MANE Select	NP_085155.1:n.-35_-33del
NR_037860.2:n.57_59del (EGFL8)