Canonical Allele Identifier: CA2656636628

Gene: PLA2G6

Linked Data

• gnomAD v4: 22-38113558-GACGGAAGACATCCACAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38113560_38113576del , CM000684.2:g.38113560_38113576del	GRCh38
NC_000022.10:g.38509567_38509583del , CM000684.1:g.38509567_38509583del	GRCh37
NC_000022.9:g.36839513_36839529del	NCBI36
NG_007094.2:g.97116_97132del
NG_033059.2:g.2095_2111del
NG_007094.3:g.106204_106220del

Transcript Alleles

HGVS	Amino-acid change
ENST00000332509.8:c.2114_2130del MANE Select	ENSP00000333142.3:p.Cys705SerfsTer?
ENST00000436218.6:c.*1312_*1328del	ENSP00000401242.1:n.*1312_*1328del
ENST00000655142.1:c.*972_*988del	ENSP00000499715.1:n.*972_*988del
ENST00000660610.1:c.2114_2130del	ENSP00000499555.1:p.Cys705SerfsTer?
ENST00000663895.1:c.2114_2130del	ENSP00000499712.1:p.Cys705SerfsTer?
ENST00000664587.1:c.1976_1992del	ENSP00000499394.1:p.Cys659SerfsTer?
ENST00000665987.1:c.*1853_*1869del	ENSP00000499423.1:n.*1853_*1869del
ENST00000667521.1:c.2114_2130del	ENSP00000499665.1:p.Cys705SerfsTer?
ENST00000668499.1:c.*1973_*1989del	ENSP00000499626.1:n.*1973_*1989del
ENST00000668949.1:c.2156_2172del	ENSP00000499711.1:p.Cys719SerfsTer?
ENST00000671093.1:n.2046_2062del
ENST00000673413.1:c.*1783_*1799del	ENSP00000500600.1:n.*1783_*1799del
ENST00000332509.7:c.2114_2130del	ENSP00000333142.3:p.Cys705SerfsTer?
ENST00000335539.7:c.1952_1968del	ENSP00000335149.3:p.Cys651SerfsTer?
ENST00000402064.5:c.1952_1968del	ENSP00000386100.1:p.Cys651SerfsTer?
ENST00000496409.1:n.822_838del
NM_001004426.1:c.1952_1968del	NP_001004426.1:p.Cys651SerfsTer?
NM_001199562.1:c.1952_1968del	NP_001186491.1:p.Cys651SerfsTer?
NM_003560.2:c.2114_2130del	NP_003551.2:p.Cys705SerfsTer?
XM_005261764.1:c.2114_2130del	XP_005261821.1:p.Cys705SerfsTer?
XM_005261765.1:c.2114_2130del	XP_005261822.1:p.Cys705SerfsTer?
XM_005261766.1:c.2114_2130del	XP_005261823.1:p.Cys705SerfsTer?
XM_006724332.2:c.2114_2130del	XP_006724395.1:p.Cys705SerfsTer?
XM_011530422.1:c.2009_2025del	XP_011528724.1:p.Cys670SerfsTer?
XM_011530423.1:c.1580_1596del	XP_011528725.1:p.Cys527SerfsTer?
XM_011530424.1:c.1580_1596del	XP_011528726.1:p.Cys527SerfsTer?
XM_011530425.1:c.1580_1596del	XP_011528727.1:p.Cys527SerfsTer?
XR_244390.1:n.2390_2406del
XR_430411.1:n.2274_2290del
XR_937938.1:n.2476_2492del
NM_001004426.2:c.1952_1968del	NP_001004426.1:p.Cys651SerfsTer?
NM_001199562.2:c.1952_1968del	NP_001186491.1:p.Cys651SerfsTer?
NM_001349864.1:c.2114_2130del	NP_001336793.1:p.Cys705SerfsTer?
NM_001349865.1:c.1952_1968del	NP_001336794.1:p.Cys651SerfsTer?
NM_001349866.1:c.1952_1968del	NP_001336795.1:p.Cys651SerfsTer?
NM_001349867.1:c.1580_1596del	NP_001336796.1:p.Cys527SerfsTer?
NM_001349868.1:c.1436_1452del	NP_001336797.1:p.Cys479SerfsTer?
NM_001349869.1:c.1418_1434del	NP_001336798.1:p.Cys473SerfsTer?
NM_003560.3:c.2114_2130del	NP_003551.2:p.Cys705SerfsTer?
XM_005261764.3:c.2114_2130del	XP_005261821.1:p.Cys705SerfsTer?
XM_005261765.2:c.2114_2130del	XP_005261822.1:p.Cys705SerfsTer?
XM_006724332.4:c.2114_2130del	XP_006724395.1:p.Cys705SerfsTer?
XM_017028983.1:c.1418_1434del	XP_016884472.1:p.Cys473SerfsTer?
XM_024452280.1:c.1580_1596del	XP_024308048.1:p.Cys527SerfsTer?
XM_024452281.1:c.1580_1596del	XP_024308049.1:p.Cys527SerfsTer?
XM_024452282.1:c.1580_1596del	XP_024308050.1:p.Cys527SerfsTer?
XM_024452283.1:c.1436_1452del	XP_024308051.1:p.Cys479SerfsTer?
XM_024452284.1:c.1418_1434del	XP_024308052.1:p.Cys473SerfsTer?
XM_024452285.1:c.1418_1434del	XP_024308053.1:p.Cys473SerfsTer?
XR_001755325.2:n.2297_2313del
XR_001755327.2:n.2292_2308del
XR_001755328.2:n.2258_2274del
XR_244390.3:n.2374_2390del
XR_937938.3:n.2460_2476del
NM_001199562.3:c.1952_1968del	NP_001186491.1:p.Cys651SerfsTer?
NM_001349864.2:c.2114_2130del	NP_001336793.1:p.Cys705SerfsTer?
NM_001349865.2:c.1952_1968del	NP_001336794.1:p.Cys651SerfsTer?
NM_001349866.2:c.1952_1968del	NP_001336795.1:p.Cys651SerfsTer?
NM_001349867.2:c.1580_1596del	NP_001336796.1:p.Cys527SerfsTer?
NM_001349868.2:c.1436_1452del	NP_001336797.1:p.Cys479SerfsTer?
NM_001349869.2:c.1418_1434del	NP_001336798.1:p.Cys473SerfsTer?
NM_003560.4:c.2114_2130del MANE Select	NP_003551.2:p.Cys705SerfsTer?
NM_001004426.3:c.1952_1968del	NP_001004426.1:p.Cys651SerfsTer?