Canonical Allele Identifier: CA2770531930

Gene: EGFL8 PPT2-EGFL8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164821_32164822insT , CM000668.2:g.32164821_32164822insT	GRCh38
NC_000006.11:g.32132598_32132599insT , CM000668.1:g.32132598_32132599insT	GRCh37
NC_000006.10:g.32240576_32240577insT	NCBI36
NG_042283.1:g.16370_16371insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-29+164_-29+165insT (EGFL8) MANE Select	ENSP00000333380.6:n.-29+164_-29+165insT
ENST00000333845.10:c.-29+164_-29+165insT (EGFL8)	ENSP00000333380.6:n.-29+164_-29+165insT
ENST00000395512.5:c.-29+140_-29+141insT (EGFL8)	ENSP00000378888.1:n.-29+140_-29+141insT
ENST00000421600.2:c.327+140_327+141insT (PPT2-EGFL8)
ENST00000422437.5:c.844+164_844+165insT (PPT2-EGFL8)	ENSP00000457534.1:n.844+164_844+165insT
ENST00000428388.6:c.844+164_844+165insT (PPT2-EGFL8)	ENSP00000455087.1:n.844+164_844+165insT
ENST00000432129.1:c.-29+140_-29+141insT (EGFL8)	ENSP00000401694.1:n.-29+140_-29+141insT
ENST00000453656.6:n.975+164_975+165insT (PPT2-EGFL8)
ENST00000479001.2:n.829+164_829+165insT (PPT2-EGFL8)
ENST00000583227.5:c.*396+164_*396+165insT (PPT2-EGFL8)	ENSP00000461909.1:n.*396+164_*396+165insT
ENST00000585246.5:c.*318-1317_*318-1316insT (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1317_*318-1316insT
NM_030652.3:c.-29+164_-29+165insT (EGFL8)	NP_085155.1:n.-29+164_-29+165insT
NR_037860.1:n.77+140_77+141insT (EGFL8)
NR_037861.1:n.1258+164_1258+165insT (PPT2-EGFL8)
NM_030652.4:c.-29+164_-29+165insT (EGFL8) MANE Select	NP_085155.1:n.-29+164_-29+165insT
NR_037860.2:n.87+140_87+141insT (EGFL8)