Canonical Allele Identifier: CA1619449856

Gene: PPT2-EGFL8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164267_32164268delinsTC , CM000668.2:g.32164267_32164268delinsTC	GRCh38
NC_000006.11:g.32132044_32132045delinsTC , CM000668.1:g.32132044_32132045delinsTC	GRCh37
NC_000006.10:g.32240022_32240023delinsTC	NCBI36
NG_042283.1:g.15816_15817delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421600.2:c.225-312_225-311delinsTC
ENST00000422437.5:c.766-312_766-311delinsTC	ENSP00000457534.1:n.766-312_766-311delinsTC
ENST00000428388.6:c.766-312_766-311delinsTC	ENSP00000455087.1:n.766-312_766-311delinsTC
ENST00000453656.6:n.897-312_897-311delinsTC
ENST00000479001.2:n.751-312_751-311delinsTC
ENST00000583227.5:c.*318-312_*318-311delinsTC	ENSP00000461909.1:n.*318-312_*318-311delinsTC
ENST00000585246.5:c.*317+1645_*317+1646delinsTC	ENSP00000463570.1:n.*317+1645_*317+1646delinsTC
NR_037861.1:n.1180-312_1180-311delinsTC