Canonical Allele Identifier: CA1947315157

Gene: PNPLA2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822309_822315delinsCCTTGGT , CM000673.2:g.822309_822315delinsCCTTGGT	GRCh38
NC_000011.9:g.822309_822315delinsCCTTGGT , CM000673.1:g.822309_822315delinsCCTTGGT	GRCh37
NC_000011.8:g.812309_812315delinsCCTTGGT	NCBI36
NG_023394.1:g.8409_8415delinsCCTTGGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000336615.9:c.487-88_487-82delinsCCTTGGT MANE Select	ENSP00000337701.4:n.487-88_487-82delinsCC...
ENST00000336615.8:c.487-88_487-82delinsCCTTGGT	ENSP00000337701.4:n.487-88_487-82delinsCC...
ENST00000525250.5:n.1093-88_1093-82delinsCCTTGGT
ENST00000531923.1:n.294_300delinsCCTTGGT
ENST00000617551.1:c.-764-88_-764-82delinsCCTTGGT	ENSP00000481602.1:n.-764-88_-764-82delins...
NM_020376.3:c.487-88_487-82delinsCCTTGGT	NP_065109.1:n.487-88_487-82delinsCCTTGGT
XM_006718265.2:c.487-88_487-82delinsCCTTGGT	XP_006718328.1:n.487-88_487-82delinsCCTTG...
XM_006718266.2:c.487-88_487-82delinsCCTTGGT	XP_006718329.1:n.487-88_487-82delinsCCTTG...
XM_006718265.3:c.487-88_487-82delinsCCTTGGT	XP_006718328.1:n.487-88_487-82delinsCCTTG...
XM_006718266.3:c.487-88_487-82delinsCCTTGGT	XP_006718329.1:n.487-88_487-82delinsCCTTG...
XM_017018028.1:c.487-88_487-82delinsCCTTGGT	XP_016873517.1:n.487-88_487-82delinsCCTTG...
XM_024448618.1:c.487-88_487-82delinsCCTTGGT	XP_024304386.1:n.487-88_487-82delinsCCTTG...
NM_020376.4:c.487-88_487-82delinsCCTTGGT MANE Select	NP_065109.1:n.487-88_487-82delinsCCTTGGT