Canonical Allele Identifier: CA1619450010
Gene: EGFL8 HGNC NCBI
PPT2-EGFL8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32164720_32164721delinsGT , CM000668.2:g.32164720_32164721delinsGT GRCh38
NC_000006.11:g.32132497_32132498delinsGT , CM000668.1:g.32132497_32132498delinsGT GRCh37
NC_000006.10:g.32240475_32240476delinsGT NCBI36
NG_042283.1:g.16269_16270delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000333845.11:c.-29+63_-29+64delinsGT (EGFL8) MANE Select ENSP00000333380.6:n.-29+63_-29+64delinsGT
ENST00000333845.10:c.-29+63_-29+64delinsGT (EGFL8) ENSP00000333380.6:n.-29+63_-29+64delinsGT
ENST00000395512.5:c.-29+39_-29+40delinsGT (EGFL8) ENSP00000378888.1:n.-29+39_-29+40delinsGT
ENST00000421600.2:c.327+39_327+40delinsGT (PPT2-EGFL8)
ENST00000422437.5:c.844+63_844+64delinsGT (PPT2-EGFL8) ENSP00000457534.1:n.844+63_844+64delinsGT
ENST00000428388.6:c.844+63_844+64delinsGT (PPT2-EGFL8) ENSP00000455087.1:n.844+63_844+64delinsGT
ENST00000432129.1:c.-29+39_-29+40delinsGT (EGFL8) ENSP00000401694.1:n.-29+39_-29+40delinsGT
ENST00000453656.6:n.975+63_975+64delinsGT (PPT2-EGFL8)
ENST00000479001.2:n.829+63_829+64delinsGT (PPT2-EGFL8)
ENST00000583227.5:c.*396+63_*396+64delinsGT (PPT2-EGFL8) ENSP00000461909.1:n.*396+63_*396+64delinsGT
ENST00000585246.5:c.*318-1418_*318-1417delinsGT (PPT2-EGFL8) ENSP00000463570.1:n.*318-1418_*318-1417delinsGT
NM_030652.3:c.-29+63_-29+64delinsGT (EGFL8) NP_085155.1:n.-29+63_-29+64delinsGT
NR_037860.1:n.77+39_77+40delinsGT (EGFL8)
NR_037861.1:n.1258+63_1258+64delinsGT (PPT2-EGFL8)
NM_030652.4:c.-29+63_-29+64delinsGT (EGFL8) MANE Select NP_085155.1:n.-29+63_-29+64delinsGT
NR_037860.2:n.87+39_87+40delinsGT (EGFL8)