Canonical Allele Identifier: CA2573158184

Gene: PLA2G6

Linked Data

• ClinVar Variation Id: 1686077
• ClinVar RCV Id: RCV002250244
• dbSNP Id: rs2145722213

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38123208_38123212del , CM000684.2:g.38123208_38123212del	GRCh38
NC_000022.10:g.38519215_38519219del , CM000684.1:g.38519215_38519219del	GRCh37
NC_000022.9:g.36849161_36849165del	NCBI36
NG_007094.2:g.87479_87483del
NG_007094.3:g.96567_96571del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332509.8:c.1474_1478del MANE Select	ENSP00000333142.3:p.Ile492HisfsTer20
ENST00000427114.6:c.778_782del	ENSP00000407743.2:p.Ile260HisfsTer20
ENST00000436218.6:c.*672_*676del	ENSP00000401242.1:n.*672_*676del
ENST00000655142.1:c.*332_*336del	ENSP00000499715.1:n.*332_*336del
ENST00000660610.1:c.1474_1478del	ENSP00000499555.1:p.Ile492HisfsTer20
ENST00000663895.1:c.1474_1478del	ENSP00000499712.1:p.Ile492HisfsTer20
ENST00000664587.1:c.1336_1340del	ENSP00000499394.1:p.Ile446HisfsTer20
ENST00000665987.1:c.*1213_*1217del	ENSP00000499423.1:n.*1213_*1217del
ENST00000667521.1:c.1474_1478del	ENSP00000499665.1:p.Ile492HisfsTer20
ENST00000668208.1:n.1442_1446del
ENST00000668499.1:c.*1196_*1200del	ENSP00000499626.1:n.*1196_*1200del
ENST00000668949.1:c.1312_1316del	ENSP00000499711.1:p.Ile438HisfsTer20
ENST00000671093.1:n.1406_1410del
ENST00000673413.1:c.*1143_*1147del	ENSP00000500600.1:n.*1143_*1147del
ENST00000332509.7:c.1474_1478del	ENSP00000333142.3:p.Ile492HisfsTer20
ENST00000335539.7:c.1312_1316del	ENSP00000335149.3:p.Ile438HisfsTer20
ENST00000402064.5:c.1312_1316del	ENSP00000386100.1:p.Ile438HisfsTer20
ENST00000448094.5:c.*79_*83del	ENSP00000407106.1:n.*79_*83del
ENST00000454670.1:c.119_123del
ENST00000490473.1:n.593_597del
ENST00000491986.1:n.485_489del
NM_001004426.1:c.1312_1316del	NP_001004426.1:p.Ile438HisfsTer20
NM_001199562.1:c.1312_1316del	NP_001186491.1:p.Ile438HisfsTer20
NM_003560.2:c.1474_1478del	NP_003551.2:p.Ile492HisfsTer20
XM_005261764.1:c.1474_1478del	XP_005261821.1:p.Ile492HisfsTer20
XM_005261765.1:c.1474_1478del	XP_005261822.1:p.Ile492HisfsTer20
XM_005261766.1:c.1474_1478del	XP_005261823.1:p.Ile492HisfsTer20
XM_006724332.2:c.1474_1478del	XP_006724395.1:p.Ile492HisfsTer20
XM_011530422.1:c.1369_1373del	XP_011528724.1:p.Ile457HisfsTer20
XM_011530423.1:c.940_944del	XP_011528725.1:p.Ile314HisfsTer20
XM_011530424.1:c.940_944del	XP_011528726.1:p.Ile314HisfsTer20
XM_011530425.1:c.940_944del	XP_011528727.1:p.Ile314HisfsTer20
XM_011530426.1:c.1474_1478del	XP_011528728.1:p.Ile492HisfsTer20
XR_244390.1:n.1582_1586del
XR_244392.1:n.1635_1639del
XR_430411.1:n.1634_1638del
XR_430412.1:n.1687_1691del
XR_937937.1:n.1582_1586del
XR_937938.1:n.1582_1586del
XR_937939.1:n.1634_1638del
XR_937940.1:n.1634_1638del
NM_001004426.2:c.1312_1316del	NP_001004426.1:p.Ile438HisfsTer20
NM_001199562.2:c.1312_1316del	NP_001186491.1:p.Ile438HisfsTer20
NM_001349864.1:c.1474_1478del	NP_001336793.1:p.Ile492HisfsTer20
NM_001349865.1:c.1312_1316del	NP_001336794.1:p.Ile438HisfsTer20
NM_001349866.1:c.1312_1316del	NP_001336795.1:p.Ile438HisfsTer20
NM_001349867.1:c.940_944del	NP_001336796.1:p.Ile314HisfsTer20
NM_001349868.1:c.796_800del	NP_001336797.1:p.Ile266HisfsTer20
NM_001349869.1:c.778_782del	NP_001336798.1:p.Ile260HisfsTer20
NM_003560.3:c.1474_1478del	NP_003551.2:p.Ile492HisfsTer20
XM_005261764.3:c.1474_1478del	XP_005261821.1:p.Ile492HisfsTer20
XM_005261765.2:c.1474_1478del	XP_005261822.1:p.Ile492HisfsTer20
XM_006724332.4:c.1474_1478del	XP_006724395.1:p.Ile492HisfsTer20
XM_011530426.3:c.1474_1478del	XP_011528728.1:p.Ile492HisfsTer20
XM_017028983.1:c.778_782del	XP_016884472.1:p.Ile260HisfsTer20
XM_017028986.2:c.1312_1316del	XP_016884475.1:p.Ile438HisfsTer20
XM_017028987.2:c.*79_*83del	XP_016884476.1:n.*79_*83del
XM_017028988.2:c.*87_*91del	XP_016884477.1:n.*87_*91del
XM_024452280.1:c.940_944del	XP_024308048.1:p.Ile314HisfsTer20
XM_024452281.1:c.940_944del	XP_024308049.1:p.Ile314HisfsTer20
XM_024452282.1:c.940_944del	XP_024308050.1:p.Ile314HisfsTer20
XM_024452283.1:c.796_800del	XP_024308051.1:p.Ile266HisfsTer20
XM_024452284.1:c.778_782del	XP_024308052.1:p.Ile260HisfsTer20
XM_024452285.1:c.778_782del	XP_024308053.1:p.Ile260HisfsTer20
XR_001755325.2:n.1566_1570del
XR_001755327.2:n.1566_1570del
XR_001755328.2:n.1618_1622del
XR_244390.3:n.1566_1570del
XR_937938.3:n.1566_1570del
XR_937939.3:n.1618_1622del
XR_937940.3:n.1618_1622del
NM_001199562.3:c.1312_1316del	NP_001186491.1:p.Ile438HisfsTer20
NM_001349864.2:c.1474_1478del	NP_001336793.1:p.Ile492HisfsTer20
NM_001349865.2:c.1312_1316del	NP_001336794.1:p.Ile438HisfsTer20
NM_001349866.2:c.1312_1316del	NP_001336795.1:p.Ile438HisfsTer20
NM_001349867.2:c.940_944del	NP_001336796.1:p.Ile314HisfsTer20
NM_001349868.2:c.796_800del	NP_001336797.1:p.Ile266HisfsTer20
NM_001349869.2:c.778_782del	NP_001336798.1:p.Ile260HisfsTer20
NM_003560.4:c.1474_1478del MANE Select	NP_003551.2:p.Ile492HisfsTer20
NM_001004426.3:c.1312_1316del	NP_001004426.1:p.Ile438HisfsTer20