Canonical Allele Identifier: CA1025600777

Gene: PLA2G6

Linked Data

• gnomAD v3: 22-38112199-C-CCT
• gnomAD v4: 22-38112199-C-CCT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38112201_38112202dup , CM000684.2:g.38112201_38112202dup	GRCh38
NC_000022.10:g.38508208_38508209dup , CM000684.1:g.38508208_38508209dup	GRCh37
NC_000022.9:g.36838154_36838155dup	NCBI36
NG_007094.2:g.98490_98491dup
NG_033059.2:g.3469_3470dup
NG_007094.3:g.107578_107579dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332509.8:c.2381_2382dup MANE Select	ENSP00000333142.3:p.Glu795ArgfsTer24
ENST00000436218.6:c.*1579_*1580dup	ENSP00000401242.1:n.*1579_*1580dup
ENST00000655142.1:c.*1239_*1240dup	ENSP00000499715.1:n.*1239_*1240dup
ENST00000660610.1:c.2381_2382dup	ENSP00000499555.1:p.Glu795ArgfsTer24
ENST00000663895.1:c.2381_2382dup	ENSP00000499712.1:p.Glu795ArgfsTer24
ENST00000664587.1:c.2243_2244dup	ENSP00000499394.1:p.Glu749ArgfsTer24
ENST00000665987.1:c.*2120_*2121dup	ENSP00000499423.1:n.*2120_*2121dup
ENST00000667521.1:c.2381_2382dup	ENSP00000499665.1:p.Glu795ArgfsTer24
ENST00000668499.1:c.*2240_*2241dup	ENSP00000499626.1:n.*2240_*2241dup
ENST00000668949.1:c.2423_2424dup	ENSP00000499711.1:p.Glu809ArgfsTer24
ENST00000671093.1:n.2313_2314dup
ENST00000673413.1:c.*2050_*2051dup	ENSP00000500600.1:n.*2050_*2051dup
ENST00000332509.7:c.2381_2382dup	ENSP00000333142.3:p.Glu795ArgfsTer24
ENST00000335539.7:c.2219_2220dup	ENSP00000335149.3:p.Glu741ArgfsTer24
ENST00000402064.5:c.2219_2220dup	ENSP00000386100.1:p.Glu741ArgfsTer24
ENST00000463287.1:n.457_458dup
NM_001004426.1:c.2219_2220dup	NP_001004426.1:p.Glu741ArgfsTer24
NM_001199562.1:c.2219_2220dup	NP_001186491.1:p.Glu741ArgfsTer24
NM_003560.2:c.2381_2382dup	NP_003551.2:p.Glu795ArgfsTer24
XM_005261764.1:c.2381_2382dup	XP_005261821.1:p.Glu795ArgfsTer24
XM_005261765.1:c.2381_2382dup	XP_005261822.1:p.Glu795ArgfsTer24
XM_005261766.1:c.2381_2382dup	XP_005261823.1:p.Glu795ArgfsTer24
XM_006724332.2:c.2381_2382dup	XP_006724395.1:p.Glu795ArgfsTer24
XM_011530422.1:c.2276_2277dup	XP_011528724.1:p.Glu760ArgfsTer24
XM_011530423.1:c.1847_1848dup	XP_011528725.1:p.Glu617ArgfsTer24
XM_011530424.1:c.1847_1848dup	XP_011528726.1:p.Glu617ArgfsTer24
XM_011530425.1:c.1847_1848dup	XP_011528727.1:p.Glu617ArgfsTer24
NM_001004426.2:c.2219_2220dup	NP_001004426.1:p.Glu741ArgfsTer24
NM_001199562.2:c.2219_2220dup	NP_001186491.1:p.Glu741ArgfsTer24
NM_001349864.1:c.2381_2382dup	NP_001336793.1:p.Glu795ArgfsTer24
NM_001349865.1:c.2219_2220dup	NP_001336794.1:p.Glu741ArgfsTer24
NM_001349866.1:c.2219_2220dup	NP_001336795.1:p.Glu741ArgfsTer24
NM_001349867.1:c.1847_1848dup	NP_001336796.1:p.Glu617ArgfsTer24
NM_001349868.1:c.1703_1704dup	NP_001336797.1:p.Glu569ArgfsTer24
NM_001349869.1:c.1685_1686dup	NP_001336798.1:p.Glu563ArgfsTer24
NM_003560.3:c.2381_2382dup	NP_003551.2:p.Glu795ArgfsTer24
XM_005261764.3:c.2381_2382dup	XP_005261821.1:p.Glu795ArgfsTer24
XM_005261765.2:c.2381_2382dup	XP_005261822.1:p.Glu795ArgfsTer24
XM_006724332.4:c.2381_2382dup	XP_006724395.1:p.Glu795ArgfsTer24
XM_017028983.1:c.1685_1686dup	XP_016884472.1:p.Glu563ArgfsTer24
XM_024452280.1:c.1847_1848dup	XP_024308048.1:p.Glu617ArgfsTer24
XM_024452281.1:c.1847_1848dup	XP_024308049.1:p.Glu617ArgfsTer24
XM_024452282.1:c.1847_1848dup	XP_024308050.1:p.Glu617ArgfsTer24
XM_024452283.1:c.1703_1704dup	XP_024308051.1:p.Glu569ArgfsTer24
XM_024452284.1:c.1685_1686dup	XP_024308052.1:p.Glu563ArgfsTer24
XM_024452285.1:c.1685_1686dup	XP_024308053.1:p.Glu563ArgfsTer24
XR_001755325.2:n.2564_2565dup
XR_001755327.2:n.2559_2560dup
XR_001755328.2:n.2525_2526dup
NM_001199562.3:c.2219_2220dup	NP_001186491.1:p.Glu741ArgfsTer24
NM_001349864.2:c.2381_2382dup	NP_001336793.1:p.Glu795ArgfsTer24
NM_001349865.2:c.2219_2220dup	NP_001336794.1:p.Glu741ArgfsTer24
NM_001349866.2:c.2219_2220dup	NP_001336795.1:p.Glu741ArgfsTer24
NM_001349867.2:c.1847_1848dup	NP_001336796.1:p.Glu617ArgfsTer24
NM_001349868.2:c.1703_1704dup	NP_001336797.1:p.Glu569ArgfsTer24
NM_001349869.2:c.1685_1686dup	NP_001336798.1:p.Glu563ArgfsTer24
NM_003560.4:c.2381_2382dup MANE Select	NP_003551.2:p.Glu795ArgfsTer24
NM_001004426.3:c.2219_2220dup	NP_001004426.1:p.Glu741ArgfsTer24