Canonical Allele Identifier: CA639395780

Gene: PLA2G6

Linked Data

• dbSNP Id: rs1477542238
• gnomAD v2: 22-38509573-A-ACAT
• gnomAD v3: 22-38113566-A-ACAT
• gnomAD v4: 22-38113566-A-ACAT
• MyVariant Identifiers: chr22:g.38509573_38509574insCAT (hg19) ; chr22:g.38113566_38113567insCAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38113568_38113570dup , CM000684.2:g.38113568_38113570dup	GRCh38
NC_000022.10:g.38509575_38509577dup , CM000684.1:g.38509575_38509577dup	GRCh37
NC_000022.9:g.36839521_36839523dup	NCBI36
NG_007094.2:g.97122_97124dup
NG_033059.2:g.2101_2103dup
NG_007094.3:g.106210_106212dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000332509.8:c.2120_2122dup MANE Select	ENSP00000333142.3:p.Asp707_Val708insAsp
ENST00000436218.6:c.*1318_*1320dup	ENSP00000401242.1:n.*1318_*1320dup
ENST00000655142.1:c.*978_*980dup	ENSP00000499715.1:n.*978_*980dup
ENST00000660610.1:c.2120_2122dup	ENSP00000499555.1:p.Asp707_Val708insAsp
ENST00000663895.1:c.2120_2122dup	ENSP00000499712.1:p.Asp707_Val708insAsp
ENST00000664587.1:c.1982_1984dup	ENSP00000499394.1:p.Asp661_Val662insAsp
ENST00000665987.1:c.*1859_*1861dup	ENSP00000499423.1:n.*1859_*1861dup
ENST00000667521.1:c.2120_2122dup	ENSP00000499665.1:p.Asp707_Val708insAsp
ENST00000668499.1:c.*1979_*1981dup	ENSP00000499626.1:n.*1979_*1981dup
ENST00000668949.1:c.2162_2164dup	ENSP00000499711.1:p.Asp721_Val722insAsp
ENST00000671093.1:n.2052_2054dup
ENST00000673413.1:c.*1789_*1791dup	ENSP00000500600.1:n.*1789_*1791dup
ENST00000332509.7:c.2120_2122dup	ENSP00000333142.3:p.Asp707_Val708insAsp
ENST00000335539.7:c.1958_1960dup	ENSP00000335149.3:p.Asp653_Val654insAsp
ENST00000402064.5:c.1958_1960dup	ENSP00000386100.1:p.Asp653_Val654insAsp
ENST00000496409.1:n.828_830dup
NM_001004426.1:c.1958_1960dup	NP_001004426.1:p.Asp653_Val654insAsp
NM_001199562.1:c.1958_1960dup	NP_001186491.1:p.Asp653_Val654insAsp
NM_003560.2:c.2120_2122dup	NP_003551.2:p.Asp707_Val708insAsp
XM_005261764.1:c.2120_2122dup	XP_005261821.1:p.Asp707_Val708insAsp
XM_005261765.1:c.2120_2122dup	XP_005261822.1:p.Asp707_Val708insAsp
XM_005261766.1:c.2120_2122dup	XP_005261823.1:p.Asp707_Val708insAsp
XM_006724332.2:c.2120_2122dup	XP_006724395.1:p.Asp707_Val708insAsp
XM_011530422.1:c.2015_2017dup	XP_011528724.1:p.Asp672_Val673insAsp
XM_011530423.1:c.1586_1588dup	XP_011528725.1:p.Asp529_Val530insAsp
XM_011530424.1:c.1586_1588dup	XP_011528726.1:p.Asp529_Val530insAsp
XM_011530425.1:c.1586_1588dup	XP_011528727.1:p.Asp529_Val530insAsp
XR_244390.1:n.2396_2398dup
XR_430411.1:n.2280_2282dup
XR_937938.1:n.2482_2484dup
NM_001004426.2:c.1958_1960dup	NP_001004426.1:p.Asp653_Val654insAsp
NM_001199562.2:c.1958_1960dup	NP_001186491.1:p.Asp653_Val654insAsp
NM_001349864.1:c.2120_2122dup	NP_001336793.1:p.Asp707_Val708insAsp
NM_001349865.1:c.1958_1960dup	NP_001336794.1:p.Asp653_Val654insAsp
NM_001349866.1:c.1958_1960dup	NP_001336795.1:p.Asp653_Val654insAsp
NM_001349867.1:c.1586_1588dup	NP_001336796.1:p.Asp529_Val530insAsp
NM_001349868.1:c.1442_1444dup	NP_001336797.1:p.Asp481_Val482insAsp
NM_001349869.1:c.1424_1426dup	NP_001336798.1:p.Asp475_Val476insAsp
NM_003560.3:c.2120_2122dup	NP_003551.2:p.Asp707_Val708insAsp
XM_005261764.3:c.2120_2122dup	XP_005261821.1:p.Asp707_Val708insAsp
XM_005261765.2:c.2120_2122dup	XP_005261822.1:p.Asp707_Val708insAsp
XM_006724332.4:c.2120_2122dup	XP_006724395.1:p.Asp707_Val708insAsp
XM_017028983.1:c.1424_1426dup	XP_016884472.1:p.Asp475_Val476insAsp
XM_024452280.1:c.1586_1588dup	XP_024308048.1:p.Asp529_Val530insAsp
XM_024452281.1:c.1586_1588dup	XP_024308049.1:p.Asp529_Val530insAsp
XM_024452282.1:c.1586_1588dup	XP_024308050.1:p.Asp529_Val530insAsp
XM_024452283.1:c.1442_1444dup	XP_024308051.1:p.Asp481_Val482insAsp
XM_024452284.1:c.1424_1426dup	XP_024308052.1:p.Asp475_Val476insAsp
XM_024452285.1:c.1424_1426dup	XP_024308053.1:p.Asp475_Val476insAsp
XR_001755325.2:n.2303_2305dup
XR_001755327.2:n.2298_2300dup
XR_001755328.2:n.2264_2266dup
XR_244390.3:n.2380_2382dup
XR_937938.3:n.2466_2468dup
NM_001199562.3:c.1958_1960dup	NP_001186491.1:p.Asp653_Val654insAsp
NM_001349864.2:c.2120_2122dup	NP_001336793.1:p.Asp707_Val708insAsp
NM_001349865.2:c.1958_1960dup	NP_001336794.1:p.Asp653_Val654insAsp
NM_001349866.2:c.1958_1960dup	NP_001336795.1:p.Asp653_Val654insAsp
NM_001349867.2:c.1586_1588dup	NP_001336796.1:p.Asp529_Val530insAsp
NM_001349868.2:c.1442_1444dup	NP_001336797.1:p.Asp481_Val482insAsp
NM_001349869.2:c.1424_1426dup	NP_001336798.1:p.Asp475_Val476insAsp
NM_003560.4:c.2120_2122dup MANE Select	NP_003551.2:p.Asp707_Val708insAsp
NM_001004426.3:c.1958_1960dup	NP_001004426.1:p.Asp653_Val654insAsp