Canonical Allele Identifier: CA2678108115

Gene: EGFL8 PPT2-EGFL8

Linked Data

• gnomAD v4: 6-32164591-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164594del , CM000668.2:g.32164594del	GRCh38
NC_000006.11:g.32132371del , CM000668.1:g.32132371del	GRCh37
NC_000006.10:g.32240349del	NCBI36
NG_042283.1:g.16143del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.10:c.-92del (EGFL8)	ENSP00000333380.6:n.-92del
ENST00000421600.2:c.240del (PPT2-EGFL8)
ENST00000422437.5:c.781del (PPT2-EGFL8)	ENSP00000457534.1:p.His261ThrfsTer8
ENST00000428388.6:c.781del (PPT2-EGFL8)	ENSP00000455087.1:p.His261ThrfsTer8
ENST00000453656.6:n.912del (PPT2-EGFL8)
ENST00000479001.2:n.766del (PPT2-EGFL8)
ENST00000583227.5:c.*333del (PPT2-EGFL8)	ENSP00000461909.1:n.*333del
ENST00000585246.5:c.*318-1544del (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1544del
NR_037861.1:n.1195del (PPT2-EGFL8)