Canonical Allele Identifier: CA2770531929

Gene: EGFL8 PPT2-EGFL8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164819_32164820insT , CM000668.2:g.32164819_32164820insT	GRCh38
NC_000006.11:g.32132596_32132597insT , CM000668.1:g.32132596_32132597insT	GRCh37
NC_000006.10:g.32240574_32240575insT	NCBI36
NG_042283.1:g.16368_16369insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-29+162_-29+163insT (EGFL8) MANE Select	ENSP00000333380.6:n.-29+162_-29+163insT
ENST00000333845.10:c.-29+162_-29+163insT (EGFL8)	ENSP00000333380.6:n.-29+162_-29+163insT
ENST00000395512.5:c.-29+138_-29+139insT (EGFL8)	ENSP00000378888.1:n.-29+138_-29+139insT
ENST00000421600.2:c.327+138_327+139insT (PPT2-EGFL8)
ENST00000422437.5:c.844+162_844+163insT (PPT2-EGFL8)	ENSP00000457534.1:n.844+162_844+163insT
ENST00000428388.6:c.844+162_844+163insT (PPT2-EGFL8)	ENSP00000455087.1:n.844+162_844+163insT
ENST00000432129.1:c.-29+138_-29+139insT (EGFL8)	ENSP00000401694.1:n.-29+138_-29+139insT
ENST00000453656.6:n.975+162_975+163insT (PPT2-EGFL8)
ENST00000479001.2:n.829+162_829+163insT (PPT2-EGFL8)
ENST00000583227.5:c.*396+162_*396+163insT (PPT2-EGFL8)	ENSP00000461909.1:n.*396+162_*396+163insT
ENST00000585246.5:c.*318-1319_*318-1318insT (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1319_*318-1318insT
NM_030652.3:c.-29+162_-29+163insT (EGFL8)	NP_085155.1:n.-29+162_-29+163insT
NR_037860.1:n.77+138_77+139insT (EGFL8)
NR_037861.1:n.1258+162_1258+163insT (PPT2-EGFL8)
NM_030652.4:c.-29+162_-29+163insT (EGFL8) MANE Select	NP_085155.1:n.-29+162_-29+163insT
NR_037860.2:n.87+138_87+139insT (EGFL8)