Canonical Allele Identifier: CA1619449864

Gene: PPT2-EGFL8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164280_32164298delinsGAACTGCTTTGTTCCCTGC , CM000668.2:g.32164280_32164298delinsGAACTGCTTTGTTCCCTGC	GRCh38
NC_000006.11:g.32132057_32132075delinsGAACTGCTTTGTTCCCTGC , CM000668.1:g.32132057_32132075delinsGAACTGCTTTGTTCCCTGC	GRCh37
NC_000006.10:g.32240035_32240053delinsGAACTGCTTTGTTCCCTGC	NCBI36
NG_042283.1:g.15829_15847delinsGAACTGCTTTGTTCCCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421600.2:c.225-299_225-281delinsGAACTGCTTTGTTCCCTGC
ENST00000422437.5:c.766-299_766-281delinsGAACTGCTTTGTTCCCTGC	ENSP00000457534.1:n.766-299_766-281delinsGAACTGCTTTGTTCCCTGC
ENST00000428388.6:c.766-299_766-281delinsGAACTGCTTTGTTCCCTGC	ENSP00000455087.1:n.766-299_766-281delinsGAACTGCTTTGTTCCCTGC
ENST00000453656.6:n.897-299_897-281delinsGAACTGCTTTGTTCCCTGC
ENST00000479001.2:n.751-299_751-281delinsGAACTGCTTTGTTCCCTGC
ENST00000583227.5:c.*318-299_*318-281delinsGAACTGCTTTGTTCCCTGC	ENSP00000461909.1:n.*318-299_*318-281delinsGAACTGCTTTGTTCCCTG...
ENST00000585246.5:c.*317+1658_*317+1676delinsGAACTGCTTTGTTCCCTGC	ENSP00000463570.1:n.*317+1658_*317+1676delinsGAACTGCTTTGTTCCC...
NR_037861.1:n.1180-299_1180-281delinsGAACTGCTTTGTTCCCTGC