Canonical Allele Identifier: CA1619449839

Gene: PPT2-EGFL8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164207_32164208delinsGC , CM000668.2:g.32164207_32164208delinsGC	GRCh38
NC_000006.11:g.32131984_32131985delinsGC , CM000668.1:g.32131984_32131985delinsGC	GRCh37
NC_000006.10:g.32239962_32239963delinsGC	NCBI36
NG_042283.1:g.15756_15757delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421600.2:c.225-372_225-371delinsGC
ENST00000422437.5:c.766-372_766-371delinsGC	ENSP00000457534.1:n.766-372_766-371delinsGC
ENST00000428388.6:c.766-372_766-371delinsGC	ENSP00000455087.1:n.766-372_766-371delinsGC
ENST00000453656.6:n.897-372_897-371delinsGC
ENST00000479001.2:n.751-372_751-371delinsGC
ENST00000583227.5:c.*318-372_*318-371delinsGC	ENSP00000461909.1:n.*318-372_*318-371delinsGC
ENST00000585246.5:c.*317+1585_*317+1586delinsGC	ENSP00000463570.1:n.*317+1585_*317+1586delinsGC
NR_037861.1:n.1180-372_1180-371delinsGC