Canonical Allele Identifier: CA2656643585

Gene: PLA2G6

Linked Data

• gnomAD v4: 22-38123203-G-GGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38123212_38123214dup , CM000684.2:g.38123212_38123214dup	GRCh38
NC_000022.10:g.38519219_38519221dup , CM000684.1:g.38519219_38519221dup	GRCh37
NC_000022.9:g.36849165_36849167dup	NCBI36
NG_007094.2:g.87485_87487dup
NG_007094.3:g.96573_96575dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332509.8:c.1480_1482dup MANE Select	ENSP00000333142.3:p.Ile494_Gln495insIle
ENST00000427114.6:c.784_786dup	ENSP00000407743.2:p.Ile262_Gln263insIle
ENST00000436218.6:c.*678_*680dup	ENSP00000401242.1:n.*678_*680dup
ENST00000655142.1:c.*338_*340dup	ENSP00000499715.1:n.*338_*340dup
ENST00000660610.1:c.1480_1482dup	ENSP00000499555.1:p.Ile494_Gln495insIle
ENST00000663895.1:c.1480_1482dup	ENSP00000499712.1:p.Ile494_Gln495insIle
ENST00000664587.1:c.1342_1344dup	ENSP00000499394.1:p.Ile448_Gln449insIle
ENST00000665987.1:c.*1219_*1221dup	ENSP00000499423.1:n.*1219_*1221dup
ENST00000667521.1:c.1480_1482dup	ENSP00000499665.1:p.Ile494_Gln495insIle
ENST00000668208.1:n.1448_1450dup
ENST00000668499.1:c.*1202_*1204dup	ENSP00000499626.1:n.*1202_*1204dup
ENST00000668949.1:c.1318_1320dup	ENSP00000499711.1:p.Ile440_Gln441insIle
ENST00000671093.1:n.1412_1414dup
ENST00000673413.1:c.*1149_*1151dup	ENSP00000500600.1:n.*1149_*1151dup
ENST00000332509.7:c.1480_1482dup	ENSP00000333142.3:p.Ile494_Gln495insIle
ENST00000335539.7:c.1318_1320dup	ENSP00000335149.3:p.Ile440_Gln441insIle
ENST00000402064.5:c.1318_1320dup	ENSP00000386100.1:p.Ile440_Gln441insIle
ENST00000448094.5:c.*85_*87dup	ENSP00000407106.1:n.*85_*87dup
ENST00000454670.1:c.125_127dup
ENST00000491986.1:n.491_493dup
NM_001004426.1:c.1318_1320dup	NP_001004426.1:p.Ile440_Gln441insIle
NM_001199562.1:c.1318_1320dup	NP_001186491.1:p.Ile440_Gln441insIle
NM_003560.2:c.1480_1482dup	NP_003551.2:p.Ile494_Gln495insIle
XM_005261764.1:c.1480_1482dup	XP_005261821.1:p.Ile494_Gln495insIle
XM_005261765.1:c.1480_1482dup	XP_005261822.1:p.Ile494_Gln495insIle
XM_005261766.1:c.1480_1482dup	XP_005261823.1:p.Ile494_Gln495insIle
XM_006724332.2:c.1480_1482dup	XP_006724395.1:p.Ile494_Gln495insIle
XM_011530422.1:c.1375_1377dup	XP_011528724.1:p.Ile459_Gln460insIle
XM_011530423.1:c.946_948dup	XP_011528725.1:p.Ile316_Gln317insIle
XM_011530424.1:c.946_948dup	XP_011528726.1:p.Ile316_Gln317insIle
XM_011530425.1:c.946_948dup	XP_011528727.1:p.Ile316_Gln317insIle
XM_011530426.1:c.1480_1482dup	XP_011528728.1:p.Ile494_Gln495insIle
XR_244390.1:n.1588_1590dup
XR_244392.1:n.1641_1643dup
XR_430411.1:n.1640_1642dup
XR_430412.1:n.1693_1695dup
XR_937937.1:n.1588_1590dup
XR_937938.1:n.1588_1590dup
XR_937939.1:n.1640_1642dup
XR_937940.1:n.1640_1642dup
NM_001004426.2:c.1318_1320dup	NP_001004426.1:p.Ile440_Gln441insIle
NM_001199562.2:c.1318_1320dup	NP_001186491.1:p.Ile440_Gln441insIle
NM_001349864.1:c.1480_1482dup	NP_001336793.1:p.Ile494_Gln495insIle
NM_001349865.1:c.1318_1320dup	NP_001336794.1:p.Ile440_Gln441insIle
NM_001349866.1:c.1318_1320dup	NP_001336795.1:p.Ile440_Gln441insIle
NM_001349867.1:c.946_948dup	NP_001336796.1:p.Ile316_Gln317insIle
NM_001349868.1:c.802_804dup	NP_001336797.1:p.Ile268_Gln269insIle
NM_001349869.1:c.784_786dup	NP_001336798.1:p.Ile262_Gln263insIle
NM_003560.3:c.1480_1482dup	NP_003551.2:p.Ile494_Gln495insIle
XM_005261764.3:c.1480_1482dup	XP_005261821.1:p.Ile494_Gln495insIle
XM_005261765.2:c.1480_1482dup	XP_005261822.1:p.Ile494_Gln495insIle
XM_006724332.4:c.1480_1482dup	XP_006724395.1:p.Ile494_Gln495insIle
XM_011530426.3:c.1480_1482dup	XP_011528728.1:p.Ile494_Gln495insIle
XM_017028983.1:c.784_786dup	XP_016884472.1:p.Ile262_Gln263insIle
XM_017028986.2:c.1318_1320dup	XP_016884475.1:p.Ile440_Gln441insIle
XM_017028987.2:c.*85_*87dup	XP_016884476.1:n.*85_*87dup
XM_017028988.2:c.*93_*95dup	XP_016884477.1:n.*93_*95dup
XM_024452280.1:c.946_948dup	XP_024308048.1:p.Ile316_Gln317insIle
XM_024452281.1:c.946_948dup	XP_024308049.1:p.Ile316_Gln317insIle
XM_024452282.1:c.946_948dup	XP_024308050.1:p.Ile316_Gln317insIle
XM_024452283.1:c.802_804dup	XP_024308051.1:p.Ile268_Gln269insIle
XM_024452284.1:c.784_786dup	XP_024308052.1:p.Ile262_Gln263insIle
XM_024452285.1:c.784_786dup	XP_024308053.1:p.Ile262_Gln263insIle
XR_001755325.2:n.1572_1574dup
XR_001755327.2:n.1572_1574dup
XR_001755328.2:n.1624_1626dup
XR_244390.3:n.1572_1574dup
XR_937938.3:n.1572_1574dup
XR_937939.3:n.1624_1626dup
XR_937940.3:n.1624_1626dup
NM_001199562.3:c.1318_1320dup	NP_001186491.1:p.Ile440_Gln441insIle
NM_001349864.2:c.1480_1482dup	NP_001336793.1:p.Ile494_Gln495insIle
NM_001349865.2:c.1318_1320dup	NP_001336794.1:p.Ile440_Gln441insIle
NM_001349866.2:c.1318_1320dup	NP_001336795.1:p.Ile440_Gln441insIle
NM_001349867.2:c.946_948dup	NP_001336796.1:p.Ile316_Gln317insIle
NM_001349868.2:c.802_804dup	NP_001336797.1:p.Ile268_Gln269insIle
NM_001349869.2:c.784_786dup	NP_001336798.1:p.Ile262_Gln263insIle
NM_003560.4:c.1480_1482dup MANE Select	NP_003551.2:p.Ile494_Gln495insIle
NM_001004426.3:c.1318_1320dup	NP_001004426.1:p.Ile440_Gln441insIle