Canonical Allele Identifier: CA2611770998

Gene: PNPLA2

Linked Data

• gnomAD v4: 11-822000-ATCCCTCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822008_822015del , CM000673.2:g.822008_822015del	GRCh38
NC_000011.9:g.822008_822015del , CM000673.1:g.822008_822015del	GRCh37
NC_000011.8:g.812008_812015del	NCBI36
NG_023394.1:g.8108_8115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.471_478del MANE Select	ENSP00000337701.4:p.Ser158GlyfsTer17
ENST00000336615.8:c.471_478del	ENSP00000337701.4:p.Ser158GlyfsTer17
ENST00000525250.5:n.1077_1084del
ENST00000534561.1:n.138_145del
ENST00000617551.1:c.-780_-773del	ENSP00000481602.1:n.-780_-773del
NM_020376.3:c.471_478del	NP_065109.1:p.Ser158GlyfsTer17
XM_006718265.2:c.471_478del	XP_006718328.1:p.Ser158GlyfsTer17
XM_006718266.2:c.471_478del	XP_006718329.1:p.Ser158GlyfsTer17
XM_006718265.3:c.471_478del	XP_006718328.1:p.Ser158GlyfsTer17
XM_006718266.3:c.471_478del	XP_006718329.1:p.Ser158GlyfsTer17
XM_017018028.1:c.471_478del	XP_016873517.1:p.Ser158GlyfsTer17
XM_024448618.1:c.471_478del	XP_024304386.1:p.Ser158GlyfsTer17
NM_020376.4:c.471_478del MANE Select	NP_065109.1:p.Ser158GlyfsTer17