Canonical Allele Identifier: CA596798831

Gene: PNPLA2

Linked Data

• dbSNP Id: rs796065310
• gnomAD v2: 11-822000-ATCCC-A
• gnomAD v4: 11-822000-ATCCC-A
• COSMIC: COSM1723230
• MyVariant Identifiers: chr11:g.822001_822004del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822012_822015del , CM000673.2:g.822012_822015del	GRCh38
NC_000011.9:g.822012_822015del , CM000673.1:g.822012_822015del	GRCh37
NC_000011.8:g.812012_812015del	NCBI36
NG_023394.1:g.8112_8115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.475_478del MANE Select	ENSP00000337701.4:p.Leu159ArgfsTer?
ENST00000336615.8:c.475_478del	ENSP00000337701.4:p.Leu159ArgfsTer?
ENST00000525250.5:n.1081_1084del
ENST00000534561.1:n.142_145del
ENST00000617551.1:c.-776_-773del	ENSP00000481602.1:n.-776_-773del
NM_020376.3:c.475_478del	NP_065109.1:p.Leu159ArgfsTer?
XM_006718265.2:c.475_478del	XP_006718328.1:p.Leu159ArgfsTer?
XM_006718266.2:c.475_478del	XP_006718329.1:p.Leu159ArgfsTer?
XM_006718265.3:c.475_478del	XP_006718328.1:p.Leu159ArgfsTer?
XM_006718266.3:c.475_478del	XP_006718329.1:p.Leu159ArgfsTer?
XM_017018028.1:c.475_478del	XP_016873517.1:p.Leu159ArgfsTer?
XM_024448618.1:c.475_478del	XP_024304386.1:p.Leu159ArgfsTer?
NM_020376.4:c.475_478del MANE Select	NP_065109.1:p.Leu159ArgfsTer?