Canonical Allele Identifier: CA1619449841

Gene: PPT2-EGFL8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164213_32164214delinsCT , CM000668.2:g.32164213_32164214delinsCT	GRCh38
NC_000006.11:g.32131990_32131991delinsCT , CM000668.1:g.32131990_32131991delinsCT	GRCh37
NC_000006.10:g.32239968_32239969delinsCT	NCBI36
NG_042283.1:g.15762_15763delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421600.2:c.225-366_225-365delinsCT
ENST00000422437.5:c.766-366_766-365delinsCT	ENSP00000457534.1:n.766-366_766-365delinsCT
ENST00000428388.6:c.766-366_766-365delinsCT	ENSP00000455087.1:n.766-366_766-365delinsCT
ENST00000453656.6:n.897-366_897-365delinsCT
ENST00000479001.2:n.751-366_751-365delinsCT
ENST00000583227.5:c.*318-366_*318-365delinsCT	ENSP00000461909.1:n.*318-366_*318-365delinsCT
ENST00000585246.5:c.*317+1591_*317+1592delinsCT	ENSP00000463570.1:n.*317+1591_*317+1592delinsCT
NR_037861.1:n.1180-366_1180-365delinsCT