Canonical Allele Identifier: CA2656641999

Gene: PLA2G6

Linked Data

• gnomAD v4: 22-38120780-ATCTTGGTGTGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38120781_38120792del , CM000684.2:g.38120781_38120792del	GRCh38
NC_000022.10:g.38516788_38516799del , CM000684.1:g.38516788_38516799del	GRCh37
NC_000022.9:g.36846734_36846745del	NCBI36
NG_007094.2:g.89899_89910del
NG_007094.3:g.98987_98998del

Transcript Alleles

HGVS	Amino-acid change
ENST00000332509.8:c.1709_1720del MANE Select	ENSP00000333142.3:p.Glu570_Met574delinsVa...
ENST00000427114.6:c.1013_1024del	ENSP00000407743.2:p.Glu338_Met342delinsVa...
ENST00000436218.6:c.*907_*918del	ENSP00000401242.1:n.*907_*918del
ENST00000655142.1:c.*567_*578del	ENSP00000499715.1:n.*567_*578del
ENST00000660610.1:c.1709_1720del	ENSP00000499555.1:p.Glu570_Met574delinsVa...
ENST00000663895.1:c.1709_1720del	ENSP00000499712.1:p.Glu570_Met574delinsVa...
ENST00000664587.1:c.1571_1582del	ENSP00000499394.1:p.Glu524_Met528delinsVa...
ENST00000665987.1:c.*1448_*1459del	ENSP00000499423.1:n.*1448_*1459del
ENST00000667521.1:c.1709_1720del	ENSP00000499665.1:p.Glu570_Met574delinsVa...
ENST00000668208.1:n.1677_1688del
ENST00000668499.1:c.*1431_*1442del	ENSP00000499626.1:n.*1431_*1442del
ENST00000668949.1:c.1547_1558del	ENSP00000499711.1:p.Glu516_Met520delinsVa...
ENST00000671093.1:n.1641_1652del
ENST00000673413.1:c.*1378_*1389del	ENSP00000500600.1:n.*1378_*1389del
ENST00000332509.7:c.1709_1720del	ENSP00000333142.3:p.Glu570_Met574delinsVa...
ENST00000335539.7:c.1547_1558del	ENSP00000335149.3:p.Glu516_Met520delinsVa...
ENST00000402064.5:c.1547_1558del	ENSP00000386100.1:p.Glu516_Met520delinsVa...
ENST00000448094.5:c.*314_*325del	ENSP00000407106.1:n.*314_*325del
ENST00000454670.1:c.354_365del
ENST00000491986.1:n.720_731del
ENST00000496409.1:n.249_260del
NM_001004426.1:c.1547_1558del	NP_001004426.1:p.Glu516_Met520delinsVal
NM_001199562.1:c.1547_1558del	NP_001186491.1:p.Glu516_Met520delinsVal
NM_003560.2:c.1709_1720del	NP_003551.2:p.Glu570_Met574delinsVal
XM_005261764.1:c.1709_1720del	XP_005261821.1:p.Glu570_Met574delinsVal
XM_005261765.1:c.1709_1720del	XP_005261822.1:p.Glu570_Met574delinsVal
XM_005261766.1:c.1709_1720del	XP_005261823.1:p.Glu570_Met574delinsVal
XM_006724332.2:c.1709_1720del	XP_006724395.1:p.Glu570_Met574delinsVal
XM_011530422.1:c.1604_1615del	XP_011528724.1:p.Glu535_Met539delinsVal
XM_011530423.1:c.1175_1186del	XP_011528725.1:p.Glu392_Met396delinsVal
XM_011530424.1:c.1175_1186del	XP_011528726.1:p.Glu392_Met396delinsVal
XM_011530425.1:c.1175_1186del	XP_011528727.1:p.Glu392_Met396delinsVal
XM_011530426.1:c.1709_1720del	XP_011528728.1:p.Glu570_Met574delinsVal
XR_244390.1:n.1817_1828del
XR_430411.1:n.1869_1880del
XR_937937.1:n.1817_1828del
XR_937938.1:n.1903_1914del
XR_937939.1:n.1869_1880del
NM_001004426.2:c.1547_1558del	NP_001004426.1:p.Glu516_Met520delinsVal
NM_001199562.2:c.1547_1558del	NP_001186491.1:p.Glu516_Met520delinsVal
NM_001349864.1:c.1709_1720del	NP_001336793.1:p.Glu570_Met574delinsVal
NM_001349865.1:c.1547_1558del	NP_001336794.1:p.Glu516_Met520delinsVal
NM_001349866.1:c.1547_1558del	NP_001336795.1:p.Glu516_Met520delinsVal
NM_001349867.1:c.1175_1186del	NP_001336796.1:p.Glu392_Met396delinsVal
NM_001349868.1:c.1031_1042del	NP_001336797.1:p.Glu344_Met348delinsVal
NM_001349869.1:c.1013_1024del	NP_001336798.1:p.Glu338_Met342delinsVal
NM_003560.3:c.1709_1720del	NP_003551.2:p.Glu570_Met574delinsVal
XM_005261764.3:c.1709_1720del	XP_005261821.1:p.Glu570_Met574delinsVal
XM_005261765.2:c.1709_1720del	XP_005261822.1:p.Glu570_Met574delinsVal
XM_006724332.4:c.1709_1720del	XP_006724395.1:p.Glu570_Met574delinsVal
XM_011530426.3:c.1709_1720del	XP_011528728.1:p.Glu570_Met574delinsVal
XM_017028983.1:c.1013_1024del	XP_016884472.1:p.Glu338_Met342delinsVal
XM_017028986.2:c.1547_1558del	XP_016884475.1:p.Glu516_Met520delinsVal
XM_024452280.1:c.1175_1186del	XP_024308048.1:p.Glu392_Met396delinsVal
XM_024452281.1:c.1175_1186del	XP_024308049.1:p.Glu392_Met396delinsVal
XM_024452282.1:c.1175_1186del	XP_024308050.1:p.Glu392_Met396delinsVal
XM_024452283.1:c.1031_1042del	XP_024308051.1:p.Glu344_Met348delinsVal
XM_024452284.1:c.1013_1024del	XP_024308052.1:p.Glu338_Met342delinsVal
XM_024452285.1:c.1013_1024del	XP_024308053.1:p.Glu338_Met342delinsVal
XR_001755325.2:n.1801_1812del
XR_001755327.2:n.1887_1898del
XR_001755328.2:n.1853_1864del
XR_244390.3:n.1801_1812del
XR_937938.3:n.1887_1898del
XR_937939.3:n.1853_1864del
NM_001199562.3:c.1547_1558del	NP_001186491.1:p.Glu516_Met520delinsVal
NM_001349864.2:c.1709_1720del	NP_001336793.1:p.Glu570_Met574delinsVal
NM_001349865.2:c.1547_1558del	NP_001336794.1:p.Glu516_Met520delinsVal
NM_001349866.2:c.1547_1558del	NP_001336795.1:p.Glu516_Met520delinsVal
NM_001349867.2:c.1175_1186del	NP_001336796.1:p.Glu392_Met396delinsVal
NM_001349868.2:c.1031_1042del	NP_001336797.1:p.Glu344_Met348delinsVal
NM_001349869.2:c.1013_1024del	NP_001336798.1:p.Glu338_Met342delinsVal
NM_003560.4:c.1709_1720del MANE Select	NP_003551.2:p.Glu570_Met574delinsVal
NM_001004426.3:c.1547_1558del	NP_001004426.1:p.Glu516_Met520delinsVal