Canonical Allele Identifier: CA2611771360

Gene: PNPLA2

Linked Data

• gnomAD v4: 11-822100-C-CTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822100_822101insTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGG , CM000673.2:g.822100_822101insTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGG	GRCh38
NC_000011.9:g.822100_822101insTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGG , CM000673.1:g.822100_822101insTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGG	GRCh37
NC_000011.8:g.812100_812101insTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGG	NCBI36
NG_023394.1:g.8200_8201insTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.486+77_486+78insTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGG MANE Select	ENSP00000337701.4:n.486+77_486+78insTGGGGGGACCGCTCTGTGACAGGCA...
ENST00000336615.8:c.486+77_486+78insTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGG	ENSP00000337701.4:n.486+77_486+78insTGGGGGGACCGCTCTGTGACAGGCA...
ENST00000525250.5:n.1092+77_1092+78insTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGG
ENST00000531923.1:n.85_86insTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGG
ENST00000534561.1:n.230_231insTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGG
ENST00000617551.1:c.-765+77_-765+78insTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGG	ENSP00000481602.1:n.-765+77_-765+78insTGGGGGGACCGCTCTGTGACAGG...
NM_020376.3:c.486+77_486+78insTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGG	NP_065109.1:n.486+77_486+78insTGGGGGGACCGCTCTGTGACAGGCACAGCAG...
XM_006718265.2:c.486+77_486+78insTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGG	XP_006718328.1:n.486+77_486+78insTGGGGGGACCGCTCTGTGACAGGCACAG...
XM_006718266.2:c.486+77_486+78insTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGG	XP_006718329.1:n.486+77_486+78insTGGGGGGACCGCTCTGTGACAGGCACAG...
XM_006718265.3:c.486+77_486+78insTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGG	XP_006718328.1:n.486+77_486+78insTGGGGGGACCGCTCTGTGACAGGCACAG...
XM_006718266.3:c.486+77_486+78insTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGG	XP_006718329.1:n.486+77_486+78insTGGGGGGACCGCTCTGTGACAGGCACAG...
XM_017018028.1:c.486+77_486+78insTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGG	XP_016873517.1:n.486+77_486+78insTGGGGGGACCGCTCTGTGACAGGCACAG...
XM_024448618.1:c.486+77_486+78insTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGG	XP_024304386.1:n.486+77_486+78insTGGGGGGACCGCTCTGTGACAGGCACAG...
NM_020376.4:c.486+77_486+78insTGGGGGGACCGCTCTGTGACAGGCACAGCAGGGGG MANE Select	NP_065109.1:n.486+77_486+78insTGGGGGGACCGCTCTGTGACAGGCACAGCAG...