Canonical Allele Identifier: CA2587958445

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7561190-C-CCTGCTCCCCGATTCCAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561191_7561208dup , CM000681.2:g.7561191_7561208dup	GRCh38
NC_000019.9:g.7626077_7626094dup , CM000681.1:g.7626077_7626094dup	GRCh37
NC_000019.8:g.7532077_7532094dup	NCBI36
NG_013374.1:g.32040_32057dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3914-17_3914dup
ENST00000221249.10:c.3800-17_3800dup
ENST00000414982.7:c.3944-17_3944dup
ENST00000450331.7:c.3800-17_3800dup
ENST00000545201.6:c.3719-17_3719dup
ENST00000597202.1:n.272-17_272dup
ENST00000599947.1:c.283-17_283dup
ENST00000600737.5:c.3914-17_3914dup
NM_001166111.1:c.3944-17_3944dup
NM_001166112.1:c.3719-17_3719dup
NM_001166113.1:c.3800-17_3800dup
NM_001166114.1:c.3914-17_3914dup
NM_006702.4:c.3800-17_3800dup
NM_001166111.2:c.3944-17_3944dup
NM_001166114.2:c.3914-17_3914dup
NM_006702.5:c.3800-17_3800dup
NM_001166112.2:c.3719-17_3719dup