Canonical Allele Identifier: CA2813476195
Gene: PNPLA6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7534101_7534102dup , CM000681.2:g.7534101_7534102dup GRCh38
NC_000019.9:g.7598987_7598988dup , CM000681.1:g.7598987_7598988dup GRCh37
NC_000019.8:g.7504987_7504988dup NCBI36
NG_013374.1:g.4950_4951dup
NG_015806.1:g.16492_16493dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000221249.10:c.-334_-333dup ENSP00000221249.5:n.-334_-333dup
ENST00000601870.1:c.170-67_170-66dup