Canonical Allele Identifier: CA752952482

Gene: PLA2G6

Linked Data

• dbSNP Id: rs1175336795
• gnomAD v4: 22-38123002-ACT-A
• MyVariant Identifiers: chr22:g.38519010_38519011del (hg19) ; chr22:g.38123003_38123004del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38123007_38123008del , CM000684.2:g.38123007_38123008del	GRCh38
NC_000022.10:g.38519014_38519015del , CM000684.1:g.38519014_38519015del	GRCh37
NC_000022.9:g.36848960_36848961del	NCBI36
NG_007094.2:g.87687_87688del
NG_007094.3:g.96775_96776del

Transcript Alleles

HGVS	Amino-acid change
ENST00000332509.8:c.1591+91_1591+92del MANE Select	ENSP00000333142.3:n.1591+91_1591+92del
ENST00000427114.6:c.895+91_895+92del	ENSP00000407743.2:n.895+91_895+92del
ENST00000436218.6:c.*789+91_*789+92del	ENSP00000401242.1:n.*789+91_*789+92del
ENST00000655142.1:c.*449+91_*449+92del	ENSP00000499715.1:n.*449+91_*449+92del
ENST00000660610.1:c.1591+91_1591+92del	ENSP00000499555.1:n.1591+91_1591+92del
ENST00000663895.1:c.1591+91_1591+92del	ENSP00000499712.1:n.1591+91_1591+92del
ENST00000664587.1:c.1453+91_1453+92del	ENSP00000499394.1:n.1453+91_1453+92del
ENST00000665987.1:c.*1330+91_*1330+92del	ENSP00000499423.1:n.*1330+91_*1330+92del
ENST00000667521.1:c.1591+91_1591+92del	ENSP00000499665.1:n.1591+91_1591+92del
ENST00000668208.1:n.1559+91_1559+92del
ENST00000668499.1:c.*1313+91_*1313+92del	ENSP00000499626.1:n.*1313+91_*1313+92del
ENST00000668949.1:c.1429+91_1429+92del	ENSP00000499711.1:n.1429+91_1429+92del
ENST00000671093.1:n.1523+91_1523+92del
ENST00000673413.1:c.*1260+91_*1260+92del	ENSP00000500600.1:n.*1260+91_*1260+92del
ENST00000332509.7:c.1591+91_1591+92del	ENSP00000333142.3:n.1591+91_1591+92del
ENST00000335539.7:c.1429+91_1429+92del	ENSP00000335149.3:n.1429+91_1429+92del
ENST00000402064.5:c.1429+91_1429+92del	ENSP00000386100.1:n.1429+91_1429+92del
ENST00000448094.5:c.*196+91_*196+92del	ENSP00000407106.1:n.*196+91_*196+92del
ENST00000454670.1:c.236+91_236+92del
ENST00000491986.1:n.602+91_602+92del
NM_001004426.1:c.1429+91_1429+92del	NP_001004426.1:n.1429+91_1429+92del
NM_001199562.1:c.1429+91_1429+92del	NP_001186491.1:n.1429+91_1429+92del
NM_003560.2:c.1591+91_1591+92del	NP_003551.2:n.1591+91_1591+92del
XM_005261764.1:c.1591+91_1591+92del	XP_005261821.1:n.1591+91_1591+92del
XM_005261765.1:c.1591+91_1591+92del	XP_005261822.1:n.1591+91_1591+92del
XM_005261766.1:c.1591+91_1591+92del	XP_005261823.1:n.1591+91_1591+92del
XM_006724332.2:c.1591+91_1591+92del	XP_006724395.1:n.1591+91_1591+92del
XM_011530422.1:c.1486+91_1486+92del	XP_011528724.1:n.1486+91_1486+92del
XM_011530423.1:c.1057+91_1057+92del	XP_011528725.1:n.1057+91_1057+92del
XM_011530424.1:c.1057+91_1057+92del	XP_011528726.1:n.1057+91_1057+92del
XM_011530425.1:c.1057+91_1057+92del	XP_011528727.1:n.1057+91_1057+92del
XM_011530426.1:c.1591+91_1591+92del	XP_011528728.1:n.1591+91_1591+92del
XR_244390.1:n.1699+91_1699+92del
XR_244392.1:n.1752+91_1752+92del
XR_430411.1:n.1751+91_1751+92del
XR_430412.1:n.1804+91_1804+92del
XR_937937.1:n.1699+91_1699+92del
XR_937938.1:n.1699+91_1699+92del
XR_937939.1:n.1751+91_1751+92del
XR_937940.1:n.1751+91_1751+92del
NM_001004426.2:c.1429+91_1429+92del	NP_001004426.1:n.1429+91_1429+92del
NM_001199562.2:c.1429+91_1429+92del	NP_001186491.1:n.1429+91_1429+92del
NM_001349864.1:c.1591+91_1591+92del	NP_001336793.1:n.1591+91_1591+92del
NM_001349865.1:c.1429+91_1429+92del	NP_001336794.1:n.1429+91_1429+92del
NM_001349866.1:c.1429+91_1429+92del	NP_001336795.1:n.1429+91_1429+92del
NM_001349867.1:c.1057+91_1057+92del	NP_001336796.1:n.1057+91_1057+92del
NM_001349868.1:c.913+91_913+92del	NP_001336797.1:n.913+91_913+92del
NM_001349869.1:c.895+91_895+92del	NP_001336798.1:n.895+91_895+92del
NM_003560.3:c.1591+91_1591+92del	NP_003551.2:n.1591+91_1591+92del
XM_005261764.3:c.1591+91_1591+92del	XP_005261821.1:n.1591+91_1591+92del
XM_005261765.2:c.1591+91_1591+92del	XP_005261822.1:n.1591+91_1591+92del
XM_006724332.4:c.1591+91_1591+92del	XP_006724395.1:n.1591+91_1591+92del
XM_011530426.3:c.1591+91_1591+92del	XP_011528728.1:n.1591+91_1591+92del
XM_017028983.1:c.895+91_895+92del	XP_016884472.1:n.895+91_895+92del
XM_017028986.2:c.1429+91_1429+92del	XP_016884475.1:n.1429+91_1429+92del
XM_024452280.1:c.1057+91_1057+92del	XP_024308048.1:n.1057+91_1057+92del
XM_024452281.1:c.1057+91_1057+92del	XP_024308049.1:n.1057+91_1057+92del
XM_024452282.1:c.1057+91_1057+92del	XP_024308050.1:n.1057+91_1057+92del
XM_024452283.1:c.913+91_913+92del	XP_024308051.1:n.913+91_913+92del
XM_024452284.1:c.895+91_895+92del	XP_024308052.1:n.895+91_895+92del
XM_024452285.1:c.895+91_895+92del	XP_024308053.1:n.895+91_895+92del
XR_001755325.2:n.1683+91_1683+92del
XR_001755327.2:n.1683+91_1683+92del
XR_001755328.2:n.1735+91_1735+92del
XR_244390.3:n.1683+91_1683+92del
XR_937938.3:n.1683+91_1683+92del
XR_937939.3:n.1735+91_1735+92del
XR_937940.3:n.1735+91_1735+92del
NM_001199562.3:c.1429+91_1429+92del	NP_001186491.1:n.1429+91_1429+92del
NM_001349864.2:c.1591+91_1591+92del	NP_001336793.1:n.1591+91_1591+92del
NM_001349865.2:c.1429+91_1429+92del	NP_001336794.1:n.1429+91_1429+92del
NM_001349866.2:c.1429+91_1429+92del	NP_001336795.1:n.1429+91_1429+92del
NM_001349867.2:c.1057+91_1057+92del	NP_001336796.1:n.1057+91_1057+92del
NM_001349868.2:c.913+91_913+92del	NP_001336797.1:n.913+91_913+92del
NM_001349869.2:c.895+91_895+92del	NP_001336798.1:n.895+91_895+92del
NM_003560.4:c.1591+91_1591+92del MANE Select	NP_003551.2:n.1591+91_1591+92del
NM_001004426.3:c.1429+91_1429+92del	NP_001004426.1:n.1429+91_1429+92del