Canonical Allele Identifier: CA2611772568

Gene: PNPLA2

Linked Data

• gnomAD v4: 11-822319-CGGGTGGGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822322_822330del , CM000673.2:g.822322_822330del	GRCh38
NC_000011.9:g.822322_822330del , CM000673.1:g.822322_822330del	GRCh37
NC_000011.8:g.812322_812330del	NCBI36
NG_023394.1:g.8422_8430del

Transcript Alleles

HGVS	Amino-acid change
ENST00000336615.9:c.487-75_487-67del MANE Select	ENSP00000337701.4:n.487-75_487-67del
ENST00000336615.8:c.487-75_487-67del	ENSP00000337701.4:n.487-75_487-67del
ENST00000525250.5:n.1093-75_1093-67del
ENST00000531923.1:n.307_315del
ENST00000617551.1:c.-764-75_-764-67del	ENSP00000481602.1:n.-764-75_-764-67del
NM_020376.3:c.487-75_487-67del	NP_065109.1:n.487-75_487-67del
XM_006718265.2:c.487-75_487-67del	XP_006718328.1:n.487-75_487-67del
XM_006718266.2:c.487-75_487-67del	XP_006718329.1:n.487-75_487-67del
XM_006718265.3:c.487-75_487-67del	XP_006718328.1:n.487-75_487-67del
XM_006718266.3:c.487-75_487-67del	XP_006718329.1:n.487-75_487-67del
XM_017018028.1:c.487-75_487-67del	XP_016873517.1:n.487-75_487-67del
XM_024448618.1:c.487-75_487-67del	XP_024304386.1:n.487-75_487-67del
NM_020376.4:c.487-75_487-67del MANE Select	NP_065109.1:n.487-75_487-67del