Canonical Allele Identifier: CA2587950596
Gene: PNPLA6 HGNC NCBI

Linked Data

gnomAD v4: 19-7534088-GCCTTCCAAGCAT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534089_7534100del , CM000681.2:g.7534089_7534100del GRCh38
NC_000019.9:g.7598975_7598986del , CM000681.1:g.7598975_7598986del GRCh37
NC_000019.8:g.7504975_7504986del NCBI36
NG_013374.1:g.4938_4949del
NG_015806.1:g.16480_16491del

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-346_-335del ENSP00000221249.5:n.-346_-335del
ENST00000601870.1:c.170-79_170-68del
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