Canonical Allele Identifier: CA1619449962

Gene: PPT2-EGFL8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164570_32164573delinsCCTT , CM000668.2:g.32164570_32164573delinsCCTT	GRCh38
NC_000006.11:g.32132347_32132350delinsCCTT , CM000668.1:g.32132347_32132350delinsCCTT	GRCh37
NC_000006.10:g.32240325_32240328delinsCCTT	NCBI36
NG_042283.1:g.16119_16122delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421600.2:c.225-9_225-6delinsCCTT
ENST00000422437.5:c.766-9_766-6delinsCCTT	ENSP00000457534.1:n.766-9_766-6delinsCCTT
ENST00000428388.6:c.766-9_766-6delinsCCTT	ENSP00000455087.1:n.766-9_766-6delinsCCTT
ENST00000453656.6:n.897-9_897-6delinsCCTT
ENST00000479001.2:n.751-9_751-6delinsCCTT
ENST00000583227.5:c.*318-9_*318-6delinsCCTT	ENSP00000461909.1:n.*318-9_*318-6delinsCCTT
ENST00000585246.5:c.*318-1568_*318-1565delinsCCTT	ENSP00000463570.1:n.*318-1568_*318-1565delinsCCTT
NR_037861.1:n.1180-9_1180-6delinsCCTT