Canonical Allele Identifier: CA566371571

Gene: EGFL8 PPT2-EGFL8

Linked Data

• dbSNP Id: rs756078056
• gnomAD v2: 6-32132443-G-GGA
• gnomAD v4: 6-32164666-G-GGA
• MyVariant Identifiers: chr6:g.32132445_32132446insGA (hg19) ; chr6:g.32164668_32164669insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164676_32164677dup , CM000668.2:g.32164676_32164677dup	GRCh38
NC_000006.11:g.32132453_32132454dup , CM000668.1:g.32132453_32132454dup	GRCh37
NC_000006.10:g.32240431_32240432dup	NCBI36
NG_042283.1:g.16225_16226dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-29+19_-29+20dup (EGFL8) MANE Select	ENSP00000333380.6:n.-29+19_-29+20dup
ENST00000333845.10:c.-29+19_-29+20dup (EGFL8)	ENSP00000333380.6:n.-29+19_-29+20dup
ENST00000395512.5:c.-34_-33dup (EGFL8)	ENSP00000378888.1:n.-34_-33dup
ENST00000421600.2:c.322_323dup (PPT2-EGFL8)
ENST00000422437.5:c.844+19_844+20dup (PPT2-EGFL8)	ENSP00000457534.1:n.844+19_844+20dup
ENST00000428388.6:c.844+19_844+20dup (PPT2-EGFL8)	ENSP00000455087.1:n.844+19_844+20dup
ENST00000432129.1:c.-34_-33dup (EGFL8)	ENSP00000401694.1:n.-34_-33dup
ENST00000453656.6:n.975+19_975+20dup (PPT2-EGFL8)
ENST00000479001.2:n.829+19_829+20dup (PPT2-EGFL8)
ENST00000583227.5:c.*396+19_*396+20dup (PPT2-EGFL8)	ENSP00000461909.1:n.*396+19_*396+20dup
ENST00000585246.5:c.*318-1462_*318-1461dup (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1462_*318-1461dup
NM_030652.3:c.-29+19_-29+20dup (EGFL8)	NP_085155.1:n.-29+19_-29+20dup
NR_037860.1:n.72_73dup (EGFL8)
NR_037861.1:n.1258+19_1258+20dup (PPT2-EGFL8)
NM_030652.4:c.-29+19_-29+20dup (EGFL8) MANE Select	NP_085155.1:n.-29+19_-29+20dup
NR_037860.2:n.82_83dup (EGFL8)