Canonical Allele Identifier: CA2813476181
Gene: PNPLA6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534013_7534014insAGT , CM000681.2:g.7534013_7534014insAGT GRCh38
NC_000019.9:g.7598899_7598900insAGT , CM000681.1:g.7598899_7598900insAGT GRCh37
NC_000019.8:g.7504899_7504900insAGT NCBI36
NG_013374.1:g.4862_4863insAGT
NG_015806.1:g.16404_16405insAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-422_-421insAGT ENSP00000221249.5:n.-422_-421insAGT
ENST00000601870.1:c.169+145_169+146insAGT
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