Canonical Allele Identifier: CA2656640493

Gene: PLA2G6

Linked Data

• gnomAD v4: 22-38116148-GTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38116149_38116150del , CM000684.2:g.38116149_38116150del	GRCh38
NC_000022.10:g.38512156_38512157del , CM000684.1:g.38512156_38512157del	GRCh37
NC_000022.9:g.36842102_36842103del	NCBI36
NG_007094.2:g.94541_94542del
NG_007094.3:g.103629_103630del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332509.8:c.1804_1805del MANE Select	ENSP00000333142.3:p.Tyr602ArgfsTer16
ENST00000427114.6:c.1108_1109del	ENSP00000407743.2:p.Tyr370ArgfsTer16
ENST00000436218.6:c.*1002_*1003del	ENSP00000401242.1:n.*1002_*1003del
ENST00000655142.1:c.*662_*663del	ENSP00000499715.1:n.*662_*663del
ENST00000660610.1:c.1804_1805del	ENSP00000499555.1:p.Tyr602ArgfsTer16
ENST00000663895.1:c.1804_1805del	ENSP00000499712.1:p.Tyr602ArgfsTer16
ENST00000664587.1:c.1666_1667del	ENSP00000499394.1:p.Tyr556ArgfsTer16
ENST00000665987.1:c.*1543_*1544del	ENSP00000499423.1:n.*1543_*1544del
ENST00000667521.1:c.1804_1805del	ENSP00000499665.1:p.Tyr602ArgfsTer16
ENST00000668499.1:c.*1526_*1527del	ENSP00000499626.1:n.*1526_*1527del
ENST00000668949.1:c.1642_1643del	ENSP00000499711.1:p.Tyr548ArgfsTer16
ENST00000671093.1:n.1736_1737del
ENST00000673413.1:c.*1473_*1474del	ENSP00000500600.1:n.*1473_*1474del
ENST00000332509.7:c.1804_1805del	ENSP00000333142.3:p.Tyr602ArgfsTer16
ENST00000335539.7:c.1642_1643del	ENSP00000335149.3:p.Tyr548ArgfsTer16
ENST00000402064.5:c.1642_1643del	ENSP00000386100.1:p.Tyr548ArgfsTer16
ENST00000448094.5:c.*409_*410del	ENSP00000407106.1:n.*409_*410del
ENST00000454670.1:c.540_541del
ENST00000496409.1:n.344_345del
NM_001004426.1:c.1642_1643del	NP_001004426.1:p.Tyr548ArgfsTer16
NM_001199562.1:c.1642_1643del	NP_001186491.1:p.Tyr548ArgfsTer16
NM_003560.2:c.1804_1805del	NP_003551.2:p.Tyr602ArgfsTer16
XM_005261764.1:c.1804_1805del	XP_005261821.1:p.Tyr602ArgfsTer16
XM_005261765.1:c.1804_1805del	XP_005261822.1:p.Tyr602ArgfsTer16
XM_005261766.1:c.1804_1805del	XP_005261823.1:p.Tyr602ArgfsTer16
XM_006724332.2:c.1804_1805del	XP_006724395.1:p.Tyr602ArgfsTer16
XM_011530422.1:c.1699_1700del	XP_011528724.1:p.Tyr567ArgfsTer16
XM_011530423.1:c.1270_1271del	XP_011528725.1:p.Tyr424ArgfsTer16
XM_011530424.1:c.1270_1271del	XP_011528726.1:p.Tyr424ArgfsTer16
XM_011530425.1:c.1270_1271del	XP_011528727.1:p.Tyr424ArgfsTer16
XR_244390.1:n.1912_1913del
XR_430411.1:n.1964_1965del
XR_937937.1:n.2003_2004del
XR_937938.1:n.1998_1999del
XR_937939.1:n.2055_2056del
NM_001004426.2:c.1642_1643del	NP_001004426.1:p.Tyr548ArgfsTer16
NM_001199562.2:c.1642_1643del	NP_001186491.1:p.Tyr548ArgfsTer16
NM_001349864.1:c.1804_1805del	NP_001336793.1:p.Tyr602ArgfsTer16
NM_001349865.1:c.1642_1643del	NP_001336794.1:p.Tyr548ArgfsTer16
NM_001349866.1:c.1642_1643del	NP_001336795.1:p.Tyr548ArgfsTer16
NM_001349867.1:c.1270_1271del	NP_001336796.1:p.Tyr424ArgfsTer16
NM_001349868.1:c.1126_1127del	NP_001336797.1:p.Tyr376ArgfsTer16
NM_001349869.1:c.1108_1109del	NP_001336798.1:p.Tyr370ArgfsTer16
NM_003560.3:c.1804_1805del	NP_003551.2:p.Tyr602ArgfsTer16
XM_005261764.3:c.1804_1805del	XP_005261821.1:p.Tyr602ArgfsTer16
XM_005261765.2:c.1804_1805del	XP_005261822.1:p.Tyr602ArgfsTer16
XM_006724332.4:c.1804_1805del	XP_006724395.1:p.Tyr602ArgfsTer16
XM_017028983.1:c.1108_1109del	XP_016884472.1:p.Tyr370ArgfsTer16
XM_024452280.1:c.1270_1271del	XP_024308048.1:p.Tyr424ArgfsTer16
XM_024452281.1:c.1270_1271del	XP_024308049.1:p.Tyr424ArgfsTer16
XM_024452282.1:c.1270_1271del	XP_024308050.1:p.Tyr424ArgfsTer16
XM_024452283.1:c.1126_1127del	XP_024308051.1:p.Tyr376ArgfsTer16
XM_024452284.1:c.1108_1109del	XP_024308052.1:p.Tyr370ArgfsTer16
XM_024452285.1:c.1108_1109del	XP_024308053.1:p.Tyr370ArgfsTer16
XR_001755325.2:n.1987_1988del
XR_001755327.2:n.1982_1983del
XR_001755328.2:n.1948_1949del
XR_244390.3:n.1896_1897del
XR_937938.3:n.1982_1983del
XR_937939.3:n.2039_2040del
NM_001199562.3:c.1642_1643del	NP_001186491.1:p.Tyr548ArgfsTer16
NM_001349864.2:c.1804_1805del	NP_001336793.1:p.Tyr602ArgfsTer16
NM_001349865.2:c.1642_1643del	NP_001336794.1:p.Tyr548ArgfsTer16
NM_001349866.2:c.1642_1643del	NP_001336795.1:p.Tyr548ArgfsTer16
NM_001349867.2:c.1270_1271del	NP_001336796.1:p.Tyr424ArgfsTer16
NM_001349868.2:c.1126_1127del	NP_001336797.1:p.Tyr376ArgfsTer16
NM_001349869.2:c.1108_1109del	NP_001336798.1:p.Tyr370ArgfsTer16
NM_003560.4:c.1804_1805del MANE Select	NP_003551.2:p.Tyr602ArgfsTer16
NM_001004426.3:c.1642_1643del	NP_001004426.1:p.Tyr548ArgfsTer16