Canonical Allele Identifier: CA823942146
Gene: PPT2-EGFL8 HGNC NCBI

Linked Data

dbSNP Id: rs1402376764
gnomAD v3: 6-32164207-GC-G
gnomAD v4: 6-32164207-GC-G
MyVariant Identifiers: chr6:g.32131985del (hg19) chr6:g.32164208del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32164213del , CM000668.2:g.32164213del GRCh38
NC_000006.11:g.32131990del , CM000668.1:g.32131990del GRCh37
NC_000006.10:g.32239968del NCBI36
NG_042283.1:g.15762del

Transcript Alleles

HGVS Amino-acid Change
ENST00000421600.2:c.225-366del
ENST00000422437.5:c.766-366del ENSP00000457534.1:n.766-366del
ENST00000428388.6:c.766-366del ENSP00000455087.1:n.766-366del
ENST00000453656.6:n.897-366del
ENST00000479001.2:n.751-366del
ENST00000583227.5:c.*318-366del ENSP00000461909.1:n.*318-366del
ENST00000585246.5:c.*317+1591del ENSP00000463570.1:n.*317+1591del
NR_037861.1:n.1180-366del
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