Canonical Allele Identifier: CA2587950512
Gene: PNPLA6 HGNC NCBI

Linked Data

gnomAD v4: 19-7534012-GGGA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534017_7534019del , CM000681.2:g.7534017_7534019del GRCh38
NC_000019.9:g.7598903_7598905del , CM000681.1:g.7598903_7598905del GRCh37
NC_000019.8:g.7504903_7504905del NCBI36
NG_013374.1:g.4866_4868del
NG_015806.1:g.16408_16410del

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-418_-416del ENSP00000221249.5:n.-418_-416del
ENST00000601870.1:c.169+149_170-149del
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