Canonical Allele Identifier: CA2656643501

Gene: PLA2G6

Linked Data

• gnomAD v4: 22-38123184-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38123185del , CM000684.2:g.38123185del	GRCh38
NC_000022.10:g.38519192del , CM000684.1:g.38519192del	GRCh37
NC_000022.9:g.36849138del	NCBI36
NG_007094.2:g.87506del
NG_007094.3:g.96594del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332509.8:c.1501del MANE Select	ENSP00000333142.3:p.Glu501ArgfsTer?
ENST00000427114.6:c.805del	ENSP00000407743.2:p.Glu269ArgfsTer?
ENST00000436218.6:c.*699del	ENSP00000401242.1:n.*699del
ENST00000655142.1:c.*359del	ENSP00000499715.1:n.*359del
ENST00000660610.1:c.1501del	ENSP00000499555.1:p.Glu501ArgfsTer?
ENST00000663895.1:c.1501del	ENSP00000499712.1:p.Glu501ArgfsTer?
ENST00000664587.1:c.1363del	ENSP00000499394.1:p.Glu455ArgfsTer?
ENST00000665987.1:c.*1240del	ENSP00000499423.1:n.*1240del
ENST00000667521.1:c.1501del	ENSP00000499665.1:p.Glu501ArgfsTer?
ENST00000668208.1:n.1469del
ENST00000668499.1:c.*1223del	ENSP00000499626.1:n.*1223del
ENST00000668949.1:c.1339del	ENSP00000499711.1:p.Glu447ArgfsTer?
ENST00000671093.1:n.1433del
ENST00000673413.1:c.*1170del	ENSP00000500600.1:n.*1170del
ENST00000332509.7:c.1501del	ENSP00000333142.3:p.Glu501ArgfsTer?
ENST00000335539.7:c.1339del	ENSP00000335149.3:p.Glu447ArgfsTer?
ENST00000402064.5:c.1339del	ENSP00000386100.1:p.Glu447ArgfsTer?
ENST00000448094.5:c.*106del	ENSP00000407106.1:n.*106del
ENST00000454670.1:c.146del
ENST00000491986.1:n.512del
NM_001004426.1:c.1339del	NP_001004426.1:p.Glu447ArgfsTer?
NM_001199562.1:c.1339del	NP_001186491.1:p.Glu447ArgfsTer?
NM_003560.2:c.1501del	NP_003551.2:p.Glu501ArgfsTer?
XM_005261764.1:c.1501del	XP_005261821.1:p.Glu501ArgfsTer?
XM_005261765.1:c.1501del	XP_005261822.1:p.Glu501ArgfsTer?
XM_005261766.1:c.1501del	XP_005261823.1:p.Glu501ArgfsTer?
XM_006724332.2:c.1501del	XP_006724395.1:p.Glu501ArgfsTer?
XM_011530422.1:c.1396del	XP_011528724.1:p.Glu466ArgfsTer?
XM_011530423.1:c.967del	XP_011528725.1:p.Glu323ArgfsTer?
XM_011530424.1:c.967del	XP_011528726.1:p.Glu323ArgfsTer?
XM_011530425.1:c.967del	XP_011528727.1:p.Glu323ArgfsTer?
XM_011530426.1:c.1501del	XP_011528728.1:p.Glu501ArgfsTer?
XR_244390.1:n.1609del
XR_244392.1:n.1662del
XR_430411.1:n.1661del
XR_430412.1:n.1714del
XR_937937.1:n.1609del
XR_937938.1:n.1609del
XR_937939.1:n.1661del
XR_937940.1:n.1661del
NM_001004426.2:c.1339del	NP_001004426.1:p.Glu447ArgfsTer?
NM_001199562.2:c.1339del	NP_001186491.1:p.Glu447ArgfsTer?
NM_001349864.1:c.1501del	NP_001336793.1:p.Glu501ArgfsTer?
NM_001349865.1:c.1339del	NP_001336794.1:p.Glu447ArgfsTer?
NM_001349866.1:c.1339del	NP_001336795.1:p.Glu447ArgfsTer?
NM_001349867.1:c.967del	NP_001336796.1:p.Glu323ArgfsTer?
NM_001349868.1:c.823del	NP_001336797.1:p.Glu275ArgfsTer?
NM_001349869.1:c.805del	NP_001336798.1:p.Glu269ArgfsTer?
NM_003560.3:c.1501del	NP_003551.2:p.Glu501ArgfsTer?
XM_005261764.3:c.1501del	XP_005261821.1:p.Glu501ArgfsTer?
XM_005261765.2:c.1501del	XP_005261822.1:p.Glu501ArgfsTer?
XM_006724332.4:c.1501del	XP_006724395.1:p.Glu501ArgfsTer?
XM_011530426.3:c.1501del	XP_011528728.1:p.Glu501ArgfsTer?
XM_017028983.1:c.805del	XP_016884472.1:p.Glu269ArgfsTer?
XM_017028986.2:c.1339del	XP_016884475.1:p.Glu447ArgfsTer?
XM_017028987.2:c.*106del	XP_016884476.1:n.*106del
XM_017028988.2:c.*114del	XP_016884477.1:n.*114del
XM_024452280.1:c.967del	XP_024308048.1:p.Glu323ArgfsTer?
XM_024452281.1:c.967del	XP_024308049.1:p.Glu323ArgfsTer?
XM_024452282.1:c.967del	XP_024308050.1:p.Glu323ArgfsTer?
XM_024452283.1:c.823del	XP_024308051.1:p.Glu275ArgfsTer?
XM_024452284.1:c.805del	XP_024308052.1:p.Glu269ArgfsTer?
XM_024452285.1:c.805del	XP_024308053.1:p.Glu269ArgfsTer?
XR_001755325.2:n.1593del
XR_001755327.2:n.1593del
XR_001755328.2:n.1645del
XR_244390.3:n.1593del
XR_937938.3:n.1593del
XR_937939.3:n.1645del
XR_937940.3:n.1645del
NM_001199562.3:c.1339del	NP_001186491.1:p.Glu447ArgfsTer?
NM_001349864.2:c.1501del	NP_001336793.1:p.Glu501ArgfsTer?
NM_001349865.2:c.1339del	NP_001336794.1:p.Glu447ArgfsTer?
NM_001349866.2:c.1339del	NP_001336795.1:p.Glu447ArgfsTer?
NM_001349867.2:c.967del	NP_001336796.1:p.Glu323ArgfsTer?
NM_001349868.2:c.823del	NP_001336797.1:p.Glu275ArgfsTer?
NM_001349869.2:c.805del	NP_001336798.1:p.Glu269ArgfsTer?
NM_003560.4:c.1501del MANE Select	NP_003551.2:p.Glu501ArgfsTer?
NM_001004426.3:c.1339del	NP_001004426.1:p.Glu447ArgfsTer?