Canonical Allele Identifier: CA2573055012
Gene: PLA2G6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1343814
ClinVar RCV Id: RCV001845038
dbSNP Id: rs2145711022

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.38120812del , CM000684.2:g.38120812del GRCh38
NC_000022.10:g.38516819del , CM000684.1:g.38516819del GRCh37
NC_000022.9:g.36846765del NCBI36
NG_007094.2:g.89880del
NG_007094.3:g.98968del

Transcript Alleles

HGVS Amino-acid change
ENST00000332509.8:c.1690del MANE Select ENSP00000333142.3:p.Leu564Ter
ENST00000427114.6:c.994del ENSP00000407743.2:p.Leu332Ter
ENST00000436218.6:c.*888del ENSP00000401242.1:n.*888del
ENST00000655142.1:c.*548del ENSP00000499715.1:n.*548del
ENST00000660610.1:c.1690del ENSP00000499555.1:p.Leu564Ter
ENST00000663895.1:c.1690del ENSP00000499712.1:p.Leu564Ter
ENST00000664587.1:c.1552del ENSP00000499394.1:p.Leu518Ter
ENST00000665987.1:c.*1429del ENSP00000499423.1:n.*1429del
ENST00000667521.1:c.1690del ENSP00000499665.1:p.Leu564Ter
ENST00000668208.1:n.1658del
ENST00000668499.1:c.*1412del ENSP00000499626.1:n.*1412del
ENST00000668949.1:c.1528del ENSP00000499711.1:p.Leu510Ter
ENST00000671093.1:n.1622del
ENST00000673413.1:c.*1359del ENSP00000500600.1:n.*1359del
ENST00000332509.7:c.1690del ENSP00000333142.3:p.Leu564Ter
ENST00000335539.7:c.1528del ENSP00000335149.3:p.Leu510Ter
ENST00000402064.5:c.1528del ENSP00000386100.1:p.Leu510Ter
ENST00000448094.5:c.*295del ENSP00000407106.1:n.*295del
ENST00000454670.1:c.335del
ENST00000491986.1:n.701del
ENST00000496409.1:n.230del
NM_001004426.1:c.1528del NP_001004426.1:p.Leu510Ter
NM_001199562.1:c.1528del NP_001186491.1:p.Leu510Ter
NM_003560.2:c.1690del NP_003551.2:p.Leu564Ter
XM_005261764.1:c.1690del XP_005261821.1:p.Leu564Ter
XM_005261765.1:c.1690del XP_005261822.1:p.Leu564Ter
XM_005261766.1:c.1690del XP_005261823.1:p.Leu564Ter
XM_006724332.2:c.1690del XP_006724395.1:p.Leu564Ter
XM_011530422.1:c.1585del XP_011528724.1:p.Leu529Ter
XM_011530423.1:c.1156del XP_011528725.1:p.Leu386Ter
XM_011530424.1:c.1156del XP_011528726.1:p.Leu386Ter
XM_011530425.1:c.1156del XP_011528727.1:p.Leu386Ter
XM_011530426.1:c.1690del XP_011528728.1:p.Leu564Ter
XR_244390.1:n.1798del
XR_430411.1:n.1850del
XR_937937.1:n.1798del
XR_937938.1:n.1884del
XR_937939.1:n.1850del
NM_001004426.2:c.1528del NP_001004426.1:p.Leu510Ter
NM_001199562.2:c.1528del NP_001186491.1:p.Leu510Ter
NM_001349864.1:c.1690del NP_001336793.1:p.Leu564Ter
NM_001349865.1:c.1528del NP_001336794.1:p.Leu510Ter
NM_001349866.1:c.1528del NP_001336795.1:p.Leu510Ter
NM_001349867.1:c.1156del NP_001336796.1:p.Leu386Ter
NM_001349868.1:c.1012del NP_001336797.1:p.Leu338Ter
NM_001349869.1:c.994del NP_001336798.1:p.Leu332Ter
NM_003560.3:c.1690del NP_003551.2:p.Leu564Ter
XM_005261764.3:c.1690del XP_005261821.1:p.Leu564Ter
XM_005261765.2:c.1690del XP_005261822.1:p.Leu564Ter
XM_006724332.4:c.1690del XP_006724395.1:p.Leu564Ter
XM_011530426.3:c.1690del XP_011528728.1:p.Leu564Ter
XM_017028983.1:c.994del XP_016884472.1:p.Leu332Ter
XM_017028986.2:c.1528del XP_016884475.1:p.Leu510Ter
XM_024452280.1:c.1156del XP_024308048.1:p.Leu386Ter
XM_024452281.1:c.1156del XP_024308049.1:p.Leu386Ter
XM_024452282.1:c.1156del XP_024308050.1:p.Leu386Ter
XM_024452283.1:c.1012del XP_024308051.1:p.Leu338Ter
XM_024452284.1:c.994del XP_024308052.1:p.Leu332Ter
XM_024452285.1:c.994del XP_024308053.1:p.Leu332Ter
XR_001755325.2:n.1782del
XR_001755327.2:n.1868del
XR_001755328.2:n.1834del
XR_244390.3:n.1782del
XR_937938.3:n.1868del
XR_937939.3:n.1834del
NM_001199562.3:c.1528del NP_001186491.1:p.Leu510Ter
NM_001349864.2:c.1690del NP_001336793.1:p.Leu564Ter
NM_001349865.2:c.1528del NP_001336794.1:p.Leu510Ter
NM_001349866.2:c.1528del NP_001336795.1:p.Leu510Ter
NM_001349867.2:c.1156del NP_001336796.1:p.Leu386Ter
NM_001349868.2:c.1012del NP_001336797.1:p.Leu338Ter
NM_001349869.2:c.994del NP_001336798.1:p.Leu332Ter
NM_003560.4:c.1690del MANE Select NP_003551.2:p.Leu564Ter
NM_001004426.3:c.1528del NP_001004426.1:p.Leu510Ter