Canonical Allele Identifier: CA566371569
Gene: PPT2-EGFL8 HGNC NCBI

Linked Data

dbSNP Id: rs1363576192
gnomAD v2: 6-32132347-CCTT-C
gnomAD v3: 6-32164570-CCTT-C
gnomAD v4: 6-32164570-CCTT-C
MyVariant Identifiers: chr6:g.32132348_32132350del (hg19) chr6:g.32164571_32164573del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32164574_32164576del , CM000668.2:g.32164574_32164576del GRCh38
NC_000006.11:g.32132351_32132353del , CM000668.1:g.32132351_32132353del GRCh37
NC_000006.10:g.32240329_32240331del NCBI36
NG_042283.1:g.16123_16125del

Transcript Alleles

HGVS Amino-acid Change
ENST00000421600.2:c.225-5_225-3del
ENST00000422437.5:c.766-5_766-3del ENSP00000457534.1:n.766-5_766-3del
ENST00000428388.6:c.766-5_766-3del ENSP00000455087.1:n.766-5_766-3del
ENST00000453656.6:n.897-5_897-3del
ENST00000479001.2:n.751-5_751-3del
ENST00000583227.5:c.*318-5_*318-3del ENSP00000461909.1:n.*318-5_*318-3del
ENST00000585246.5:c.*318-1564_*318-1562del ENSP00000463570.1:n.*318-1564_*318-1562del
NR_037861.1:n.1180-5_1180-3del
Search 100 bp 5'
Search 100 bp 3'