Canonical Allele Identifier: CA1619449893

Gene: PPT2-EGFL8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164358_32164359delinsCT , CM000668.2:g.32164358_32164359delinsCT	GRCh38
NC_000006.11:g.32132135_32132136delinsCT , CM000668.1:g.32132135_32132136delinsCT	GRCh37
NC_000006.10:g.32240113_32240114delinsCT	NCBI36
NG_042283.1:g.15907_15908delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000421600.2:c.225-221_225-220delinsCT
ENST00000422437.5:c.766-221_766-220delinsCT	ENSP00000457534.1:n.766-221_766-220delinsCT
ENST00000428388.6:c.766-221_766-220delinsCT	ENSP00000455087.1:n.766-221_766-220delinsCT
ENST00000453656.6:n.897-221_897-220delinsCT
ENST00000479001.2:n.751-221_751-220delinsCT
ENST00000583227.5:c.*318-221_*318-220delinsCT	ENSP00000461909.1:n.*318-221_*318-220delinsCT
ENST00000585246.5:c.*317+1736_*317+1737delinsCT	ENSP00000463570.1:n.*317+1736_*317+1737delinsCT
NR_037861.1:n.1180-221_1180-220delinsCT