Canonical Allele Identifier: CA2678108200

Gene: EGFL8 PPT2-EGFL8

Linked Data

• gnomAD v4: 6-32164619-G-GCA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164619_32164620insCA , CM000668.2:g.32164619_32164620insCA	GRCh38
NC_000006.11:g.32132396_32132397insCA , CM000668.1:g.32132396_32132397insCA	GRCh37
NC_000006.10:g.32240374_32240375insCA	NCBI36
NG_042283.1:g.16168_16169insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-67_-66insCA (EGFL8) MANE Select	ENSP00000333380.6:n.-67_-66insCA
ENST00000333845.10:c.-67_-66insCA (EGFL8)	ENSP00000333380.6:n.-67_-66insCA
ENST00000395512.5:c.-91_-90insCA (EGFL8)	ENSP00000378888.1:n.-91_-90insCA
ENST00000421600.2:c.265_266insCA (PPT2-EGFL8)
ENST00000422437.5:c.806_807insCA (PPT2-EGFL8)	ENSP00000457534.1:p.Arg269SerfsTer6
ENST00000428388.6:c.806_807insCA (PPT2-EGFL8)	ENSP00000455087.1:p.Arg269SerfsTer6
ENST00000453656.6:n.937_938insCA (PPT2-EGFL8)
ENST00000479001.2:n.791_792insCA (PPT2-EGFL8)
ENST00000583227.5:c.*358_*359insCA (PPT2-EGFL8)	ENSP00000461909.1:n.*358_*359insCA
ENST00000585246.5:c.*318-1519_*318-1518insCA (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1519_*318-1518insCA
NM_030652.3:c.-67_-66insCA (EGFL8)	NP_085155.1:n.-67_-66insCA
NR_037860.1:n.15_16insCA (EGFL8)
NR_037861.1:n.1220_1221insCA (PPT2-EGFL8)
NM_030652.4:c.-67_-66insCA (EGFL8) MANE Select	NP_085155.1:n.-67_-66insCA
NR_037860.2:n.25_26insCA (EGFL8)