Canonical Allele Identifier: CA658799550

Gene: PLA2G6

Linked Data

• ClinVar Variation Id: 523033
• ClinVar RCV Id: RCV000626237 ; RCV001092014
• dbSNP Id: rs1555988204
• MyVariant Identifiers: chr22:g.38519144_38519145insCG (hg19) ; chr22:g.38123137_38123138insCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38123139_38123140dup , CM000684.2:g.38123139_38123140dup	GRCh38
NC_000022.10:g.38519146_38519147dup , CM000684.1:g.38519146_38519147dup	GRCh37
NC_000022.9:g.36849092_36849093dup	NCBI36
NG_007094.2:g.87552_87553dup
NG_007094.3:g.96640_96641dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332509.8:c.1547_1548dup MANE Select	ENSP00000333142.3:p.Gly517ArgfsTer29
ENST00000427114.6:c.851_852dup	ENSP00000407743.2:p.Gly285ArgfsTer29
ENST00000436218.6:c.*745_*746dup	ENSP00000401242.1:n.*745_*746dup
ENST00000655142.1:c.*405_*406dup	ENSP00000499715.1:n.*405_*406dup
ENST00000660610.1:c.1547_1548dup	ENSP00000499555.1:p.Gly517ArgfsTer29
ENST00000663895.1:c.1547_1548dup	ENSP00000499712.1:p.Gly517ArgfsTer29
ENST00000664587.1:c.1409_1410dup	ENSP00000499394.1:p.Gly471ArgfsTer29
ENST00000665987.1:c.*1286_*1287dup	ENSP00000499423.1:n.*1286_*1287dup
ENST00000667521.1:c.1547_1548dup	ENSP00000499665.1:p.Gly517ArgfsTer29
ENST00000668208.1:n.1515_1516dup
ENST00000668499.1:c.*1269_*1270dup	ENSP00000499626.1:n.*1269_*1270dup
ENST00000668949.1:c.1385_1386dup	ENSP00000499711.1:p.Gly463ArgfsTer29
ENST00000671093.1:n.1479_1480dup
ENST00000673413.1:c.*1216_*1217dup	ENSP00000500600.1:n.*1216_*1217dup
ENST00000332509.7:c.1547_1548dup	ENSP00000333142.3:p.Gly517ArgfsTer29
ENST00000335539.7:c.1385_1386dup	ENSP00000335149.3:p.Gly463ArgfsTer29
ENST00000402064.5:c.1385_1386dup	ENSP00000386100.1:p.Gly463ArgfsTer29
ENST00000448094.5:c.*152_*153dup	ENSP00000407106.1:n.*152_*153dup
ENST00000454670.1:c.192_193dup
ENST00000491986.1:n.558_559dup
NM_001004426.1:c.1385_1386dup	NP_001004426.1:p.Gly463ArgfsTer29
NM_001199562.1:c.1385_1386dup	NP_001186491.1:p.Gly463ArgfsTer29
NM_003560.2:c.1547_1548dup	NP_003551.2:p.Gly517ArgfsTer29
XM_005261764.1:c.1547_1548dup	XP_005261821.1:p.Gly517ArgfsTer29
XM_005261765.1:c.1547_1548dup	XP_005261822.1:p.Gly517ArgfsTer29
XM_005261766.1:c.1547_1548dup	XP_005261823.1:p.Gly517ArgfsTer29
XM_006724332.2:c.1547_1548dup	XP_006724395.1:p.Gly517ArgfsTer29
XM_011530422.1:c.1442_1443dup	XP_011528724.1:p.Gly482ArgfsTer29
XM_011530423.1:c.1013_1014dup	XP_011528725.1:p.Gly339ArgfsTer29
XM_011530424.1:c.1013_1014dup	XP_011528726.1:p.Gly339ArgfsTer29
XM_011530425.1:c.1013_1014dup	XP_011528727.1:p.Gly339ArgfsTer29
XM_011530426.1:c.1547_1548dup	XP_011528728.1:p.Gly517ArgfsTer29
XR_244390.1:n.1655_1656dup
XR_244392.1:n.1708_1709dup
XR_430411.1:n.1707_1708dup
XR_430412.1:n.1760_1761dup
XR_937937.1:n.1655_1656dup
XR_937938.1:n.1655_1656dup
XR_937939.1:n.1707_1708dup
XR_937940.1:n.1707_1708dup
NM_001004426.2:c.1385_1386dup	NP_001004426.1:p.Gly463ArgfsTer29
NM_001199562.2:c.1385_1386dup	NP_001186491.1:p.Gly463ArgfsTer29
NM_001349864.1:c.1547_1548dup	NP_001336793.1:p.Gly517ArgfsTer29
NM_001349865.1:c.1385_1386dup	NP_001336794.1:p.Gly463ArgfsTer29
NM_001349866.1:c.1385_1386dup	NP_001336795.1:p.Gly463ArgfsTer29
NM_001349867.1:c.1013_1014dup	NP_001336796.1:p.Gly339ArgfsTer29
NM_001349868.1:c.869_870dup	NP_001336797.1:p.Gly291ArgfsTer29
NM_001349869.1:c.851_852dup	NP_001336798.1:p.Gly285ArgfsTer29
NM_003560.3:c.1547_1548dup	NP_003551.2:p.Gly517ArgfsTer29
XM_005261764.3:c.1547_1548dup	XP_005261821.1:p.Gly517ArgfsTer29
XM_005261765.2:c.1547_1548dup	XP_005261822.1:p.Gly517ArgfsTer29
XM_006724332.4:c.1547_1548dup	XP_006724395.1:p.Gly517ArgfsTer29
XM_011530426.3:c.1547_1548dup	XP_011528728.1:p.Gly517ArgfsTer29
XM_017028983.1:c.851_852dup	XP_016884472.1:p.Gly285ArgfsTer29
XM_017028986.2:c.1385_1386dup	XP_016884475.1:p.Gly463ArgfsTer29
XM_024452280.1:c.1013_1014dup	XP_024308048.1:p.Gly339ArgfsTer29
XM_024452281.1:c.1013_1014dup	XP_024308049.1:p.Gly339ArgfsTer29
XM_024452282.1:c.1013_1014dup	XP_024308050.1:p.Gly339ArgfsTer29
XM_024452283.1:c.869_870dup	XP_024308051.1:p.Gly291ArgfsTer29
XM_024452284.1:c.851_852dup	XP_024308052.1:p.Gly285ArgfsTer29
XM_024452285.1:c.851_852dup	XP_024308053.1:p.Gly285ArgfsTer29
XR_001755325.2:n.1639_1640dup
XR_001755327.2:n.1639_1640dup
XR_001755328.2:n.1691_1692dup
XR_244390.3:n.1639_1640dup
XR_937938.3:n.1639_1640dup
XR_937939.3:n.1691_1692dup
XR_937940.3:n.1691_1692dup
NM_001199562.3:c.1385_1386dup	NP_001186491.1:p.Gly463ArgfsTer29
NM_001349864.2:c.1547_1548dup	NP_001336793.1:p.Gly517ArgfsTer29
NM_001349865.2:c.1385_1386dup	NP_001336794.1:p.Gly463ArgfsTer29
NM_001349866.2:c.1385_1386dup	NP_001336795.1:p.Gly463ArgfsTer29
NM_001349867.2:c.1013_1014dup	NP_001336796.1:p.Gly339ArgfsTer29
NM_001349868.2:c.869_870dup	NP_001336797.1:p.Gly291ArgfsTer29
NM_001349869.2:c.851_852dup	NP_001336798.1:p.Gly285ArgfsTer29
NM_003560.4:c.1547_1548dup MANE Select	NP_003551.2:p.Gly517ArgfsTer29
NM_001004426.3:c.1385_1386dup	NP_001004426.1:p.Gly463ArgfsTer29