Canonical Allele Identifier: CA1619450047

Gene: EGFL8 PPT2-EGFL8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164810_32164811delinsTA , CM000668.2:g.32164810_32164811delinsTA	GRCh38
NC_000006.11:g.32132587_32132588delinsTA , CM000668.1:g.32132587_32132588delinsTA	GRCh37
NC_000006.10:g.32240565_32240566delinsTA	NCBI36
NG_042283.1:g.16359_16360delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-29+153_-29+154delinsTA (EGFL8) MANE Select	ENSP00000333380.6:n.-29+153_-29+154delinsTA
ENST00000333845.10:c.-29+153_-29+154delinsTA (EGFL8)	ENSP00000333380.6:n.-29+153_-29+154delinsTA
ENST00000395512.5:c.-29+129_-29+130delinsTA (EGFL8)	ENSP00000378888.1:n.-29+129_-29+130delinsTA
ENST00000421600.2:c.327+129_327+130delinsTA (PPT2-EGFL8)
ENST00000422437.5:c.844+153_844+154delinsTA (PPT2-EGFL8)	ENSP00000457534.1:n.844+153_844+154delinsTA
ENST00000428388.6:c.844+153_844+154delinsTA (PPT2-EGFL8)	ENSP00000455087.1:n.844+153_844+154delinsTA
ENST00000432129.1:c.-29+129_-29+130delinsTA (EGFL8)	ENSP00000401694.1:n.-29+129_-29+130delinsTA
ENST00000453656.6:n.975+153_975+154delinsTA (PPT2-EGFL8)
ENST00000479001.2:n.829+153_829+154delinsTA (PPT2-EGFL8)
ENST00000583227.5:c.*396+153_*396+154delinsTA (PPT2-EGFL8)	ENSP00000461909.1:n.*396+153_*396+154delinsTA
ENST00000585246.5:c.*318-1328_*318-1327delinsTA (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1328_*318-1327delinsTA
NM_030652.3:c.-29+153_-29+154delinsTA (EGFL8)	NP_085155.1:n.-29+153_-29+154delinsTA
NR_037860.1:n.77+129_77+130delinsTA (EGFL8)
NR_037861.1:n.1258+153_1258+154delinsTA (PPT2-EGFL8)
NM_030652.4:c.-29+153_-29+154delinsTA (EGFL8) MANE Select	NP_085155.1:n.-29+153_-29+154delinsTA
NR_037860.2:n.87+129_87+130delinsTA (EGFL8)