Canonical Allele Identifier: CA823942149
Gene: PPT2-EGFL8 HGNC NCBI

Linked Data

dbSNP Id: rs1398778774
gnomAD v3: 6-32164213-CT-C
gnomAD v4: 6-32164213-CT-C
MyVariant Identifiers: chr6:g.32131991del (hg19) chr6:g.32164214del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32164214del , CM000668.2:g.32164214del GRCh38
NC_000006.11:g.32131991del , CM000668.1:g.32131991del GRCh37
NC_000006.10:g.32239969del NCBI36
NG_042283.1:g.15763del

Transcript Alleles

HGVS Amino-acid Change
ENST00000421600.2:c.225-365del
ENST00000422437.5:c.766-365del ENSP00000457534.1:n.766-365del
ENST00000428388.6:c.766-365del ENSP00000455087.1:n.766-365del
ENST00000453656.6:n.897-365del
ENST00000479001.2:n.751-365del
ENST00000583227.5:c.*318-365del ENSP00000461909.1:n.*318-365del
ENST00000585246.5:c.*317+1592del ENSP00000463570.1:n.*317+1592del
NR_037861.1:n.1180-365del
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