Canonical Allele Identifier: CA1087517258

Gene: PPT2-EGFL8

Linked Data

• dbSNP Id: rs1784345905
• gnomAD v3: 6-32164280-GAACTGCTTTGTTCCCTGC-G
• gnomAD v4: 6-32164280-GAACTGCTTTGTTCCCTGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164282_32164299del , CM000668.2:g.32164282_32164299del	GRCh38
NC_000006.11:g.32132059_32132076del , CM000668.1:g.32132059_32132076del	GRCh37
NC_000006.10:g.32240037_32240054del	NCBI36
NG_042283.1:g.15831_15848del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421600.2:c.225-297_225-280del
ENST00000422437.5:c.766-297_766-280del	ENSP00000457534.1:n.766-297_766-280del
ENST00000428388.6:c.766-297_766-280del	ENSP00000455087.1:n.766-297_766-280del
ENST00000453656.6:n.897-297_897-280del
ENST00000479001.2:n.751-297_751-280del
ENST00000583227.5:c.*318-297_*318-280del	ENSP00000461909.1:n.*318-297_*318-280del
ENST00000585246.5:c.*317+1660_*317+1677del	ENSP00000463570.1:n.*317+1660_*317+1677del
NR_037861.1:n.1180-297_1180-280del