Canonical Allele Identifier: CA2404672865

Gene: PLA2G6

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38123194_38123197delinsTGAG , CM000684.2:g.38123194_38123197delinsTGAG	GRCh38
NC_000022.10:g.38519201_38519204delinsTGAG , CM000684.1:g.38519201_38519204delinsTGAG	GRCh37
NC_000022.9:g.36849147_36849150delinsTGAG	NCBI36
NG_007094.2:g.87494_87497delinsCTCA
NG_007094.3:g.96582_96585delinsCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332509.8:c.1489_1492delinsCTCA MANE Select	ENSP00000333142.3:p.Leu497=
ENST00000427114.6:c.793_796delinsCTCA	ENSP00000407743.2:p.Leu265=
ENST00000436218.6:c.*687_*690delinsCTCA	ENSP00000401242.1:n.*687_*690delinsCTCA
ENST00000655142.1:c.*347_*350delinsCTCA	ENSP00000499715.1:n.*347_*350delinsCTCA
ENST00000660610.1:c.1489_1492delinsCTCA	ENSP00000499555.1:p.Leu497=
ENST00000663895.1:c.1489_1492delinsCTCA	ENSP00000499712.1:p.Leu497=
ENST00000664587.1:c.1351_1354delinsCTCA	ENSP00000499394.1:p.Leu451=
ENST00000665987.1:c.*1228_*1231delinsCTCA	ENSP00000499423.1:n.*1228_*1231delinsCTCA
ENST00000667521.1:c.1489_1492delinsCTCA	ENSP00000499665.1:p.Leu497=
ENST00000668208.1:n.1457_1460delinsCTCA
ENST00000668499.1:c.*1211_*1214delinsCTCA	ENSP00000499626.1:n.*1211_*1214delinsCTCA
ENST00000668949.1:c.1327_1330delinsCTCA	ENSP00000499711.1:p.Leu443=
ENST00000671093.1:n.1421_1424delinsCTCA
ENST00000673413.1:c.*1158_*1161delinsCTCA	ENSP00000500600.1:n.*1158_*1161delinsCTCA
ENST00000332509.7:c.1489_1492delinsCTCA	ENSP00000333142.3:p.Leu497=
ENST00000335539.7:c.1327_1330delinsCTCA	ENSP00000335149.3:p.Leu443=
ENST00000402064.5:c.1327_1330delinsCTCA	ENSP00000386100.1:p.Leu443=
ENST00000448094.5:c.*94_*97delinsCTCA	ENSP00000407106.1:n.*94_*97delinsCTCA
ENST00000454670.1:c.134_137delinsCTCA
ENST00000491986.1:n.500_503delinsCTCA
NM_001004426.1:c.1327_1330delinsCTCA	NP_001004426.1:p.Leu443=
NM_001199562.1:c.1327_1330delinsCTCA	NP_001186491.1:p.Leu443=
NM_003560.2:c.1489_1492delinsCTCA	NP_003551.2:p.Leu497=
XM_005261764.1:c.1489_1492delinsCTCA	XP_005261821.1:p.Leu497=
XM_005261765.1:c.1489_1492delinsCTCA	XP_005261822.1:p.Leu497=
XM_005261766.1:c.1489_1492delinsCTCA	XP_005261823.1:p.Leu497=
XM_006724332.2:c.1489_1492delinsCTCA	XP_006724395.1:p.Leu497=
XM_011530422.1:c.1384_1387delinsCTCA	XP_011528724.1:p.Leu462=
XM_011530423.1:c.955_958delinsCTCA	XP_011528725.1:p.Leu319=
XM_011530424.1:c.955_958delinsCTCA	XP_011528726.1:p.Leu319=
XM_011530425.1:c.955_958delinsCTCA	XP_011528727.1:p.Leu319=
XM_011530426.1:c.1489_1492delinsCTCA	XP_011528728.1:p.Leu497=
XR_244390.1:n.1597_1600delinsCTCA
XR_244392.1:n.1650_1653delinsCTCA
XR_430411.1:n.1649_1652delinsCTCA
XR_430412.1:n.1702_1705delinsCTCA
XR_937937.1:n.1597_1600delinsCTCA
XR_937938.1:n.1597_1600delinsCTCA
XR_937939.1:n.1649_1652delinsCTCA
XR_937940.1:n.1649_1652delinsCTCA
NM_001004426.2:c.1327_1330delinsCTCA	NP_001004426.1:p.Leu443=
NM_001199562.2:c.1327_1330delinsCTCA	NP_001186491.1:p.Leu443=
NM_001349864.1:c.1489_1492delinsCTCA	NP_001336793.1:p.Leu497=
NM_001349865.1:c.1327_1330delinsCTCA	NP_001336794.1:p.Leu443=
NM_001349866.1:c.1327_1330delinsCTCA	NP_001336795.1:p.Leu443=
NM_001349867.1:c.955_958delinsCTCA	NP_001336796.1:p.Leu319=
NM_001349868.1:c.811_814delinsCTCA	NP_001336797.1:p.Leu271=
NM_001349869.1:c.793_796delinsCTCA	NP_001336798.1:p.Leu265=
NM_003560.3:c.1489_1492delinsCTCA	NP_003551.2:p.Leu497=
XM_005261764.3:c.1489_1492delinsCTCA	XP_005261821.1:p.Leu497=
XM_005261765.2:c.1489_1492delinsCTCA	XP_005261822.1:p.Leu497=
XM_006724332.4:c.1489_1492delinsCTCA	XP_006724395.1:p.Leu497=
XM_011530426.3:c.1489_1492delinsCTCA	XP_011528728.1:p.Leu497=
XM_017028983.1:c.793_796delinsCTCA	XP_016884472.1:p.Leu265=
XM_017028986.2:c.1327_1330delinsCTCA	XP_016884475.1:p.Leu443=
XM_017028987.2:c.*94_*97delinsCTCA	XP_016884476.1:n.*94_*97delinsCTCA
XM_017028988.2:c.*102_*105delinsCTCA	XP_016884477.1:n.*102_*105delinsCTCA
XM_024452280.1:c.955_958delinsCTCA	XP_024308048.1:p.Leu319=
XM_024452281.1:c.955_958delinsCTCA	XP_024308049.1:p.Leu319=
XM_024452282.1:c.955_958delinsCTCA	XP_024308050.1:p.Leu319=
XM_024452283.1:c.811_814delinsCTCA	XP_024308051.1:p.Leu271=
XM_024452284.1:c.793_796delinsCTCA	XP_024308052.1:p.Leu265=
XM_024452285.1:c.793_796delinsCTCA	XP_024308053.1:p.Leu265=
XR_001755325.2:n.1581_1584delinsCTCA
XR_001755327.2:n.1581_1584delinsCTCA
XR_001755328.2:n.1633_1636delinsCTCA
XR_244390.3:n.1581_1584delinsCTCA
XR_937938.3:n.1581_1584delinsCTCA
XR_937939.3:n.1633_1636delinsCTCA
XR_937940.3:n.1633_1636delinsCTCA
NM_001199562.3:c.1327_1330delinsCTCA	NP_001186491.1:p.Leu443=
NM_001349864.2:c.1489_1492delinsCTCA	NP_001336793.1:p.Leu497=
NM_001349865.2:c.1327_1330delinsCTCA	NP_001336794.1:p.Leu443=
NM_001349866.2:c.1327_1330delinsCTCA	NP_001336795.1:p.Leu443=
NM_001349867.2:c.955_958delinsCTCA	NP_001336796.1:p.Leu319=
NM_001349868.2:c.811_814delinsCTCA	NP_001336797.1:p.Leu271=
NM_001349869.2:c.793_796delinsCTCA	NP_001336798.1:p.Leu265=
NM_003560.4:c.1489_1492delinsCTCA MANE Select	NP_003551.2:p.Leu497=
NM_001004426.3:c.1327_1330delinsCTCA	NP_001004426.1:p.Leu443=