Canonical Allele Identifier: CA566371583

Gene: EGFL8 PPT2-EGFL8

Linked Data

• dbSNP Id: rs1228842864
• gnomAD v2: 6-32132604-AGT-A
• gnomAD v3: 6-32164827-AGT-A
• gnomAD v4: 6-32164827-AGT-A
• MyVariant Identifiers: chr6:g.32132605_32132606del (hg19) ; chr6:g.32164828_32164829del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164833_32164834del , CM000668.2:g.32164833_32164834del	GRCh38
NC_000006.11:g.32132610_32132611del , CM000668.1:g.32132610_32132611del	GRCh37
NC_000006.10:g.32240588_32240589del	NCBI36
NG_042283.1:g.16382_16383del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-29+176_-29+177del (EGFL8) MANE Select	ENSP00000333380.6:n.-29+176_-29+177del
ENST00000333845.10:c.-29+176_-29+177del (EGFL8)	ENSP00000333380.6:n.-29+176_-29+177del
ENST00000395512.5:c.-29+152_-29+153del (EGFL8)	ENSP00000378888.1:n.-29+152_-29+153del
ENST00000421600.2:c.327+152_327+153del (PPT2-EGFL8)
ENST00000422437.5:c.844+176_844+177del (PPT2-EGFL8)	ENSP00000457534.1:n.844+176_844+177del
ENST00000428388.6:c.844+176_844+177del (PPT2-EGFL8)	ENSP00000455087.1:n.844+176_844+177del
ENST00000432129.1:c.-29+152_-29+153del (EGFL8)	ENSP00000401694.1:n.-29+152_-29+153del
ENST00000453656.6:n.975+176_975+177del (PPT2-EGFL8)
ENST00000479001.2:n.829+176_829+177del (PPT2-EGFL8)
ENST00000583227.5:c.*396+176_*396+177del (PPT2-EGFL8)	ENSP00000461909.1:n.*396+176_*396+177del
ENST00000585246.5:c.*318-1305_*318-1304del (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1305_*318-1304del
NM_030652.3:c.-29+176_-29+177del (EGFL8)	NP_085155.1:n.-29+176_-29+177del
NR_037860.1:n.77+152_77+153del (EGFL8)
NR_037861.1:n.1258+176_1258+177del (PPT2-EGFL8)
NM_030652.4:c.-29+176_-29+177del (EGFL8) MANE Select	NP_085155.1:n.-29+176_-29+177del
NR_037860.2:n.87+152_87+153del (EGFL8)