Canonical Allele Identifier: CA10230677

Gene: PLA2G6

Linked Data

• dbSNP Id: rs772024534
• ExAC: 22:38511682 AGCT / A
• gnomAD v2: 22-38511682-AGCT-A
• gnomAD v4: 22-38115675-AGCT-A
• MyVariant Identifiers: chr22:g.38511683_38511685del (hg19) ; chr22:g.38115676_38115678del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.38115677_38115679del , CM000684.2:g.38115677_38115679del	GRCh38
NC_000022.10:g.38511684_38511686del , CM000684.1:g.38511684_38511686del	GRCh37
NC_000022.9:g.36841630_36841632del	NCBI36
NG_007094.2:g.95013_95015del
NG_007094.3:g.104101_104103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332509.8:c.1883_1885del MANE Select	ENSP00000333142.3:p.Gln628del
ENST00000427114.6:c.1187_1189del	ENSP00000407743.2:p.Gln396del
ENST00000436218.6:c.*1081_*1083del	ENSP00000401242.1:n.*1081_*1083del
ENST00000655142.1:c.*741_*743del	ENSP00000499715.1:n.*741_*743del
ENST00000660610.1:c.1883_1885del	ENSP00000499555.1:p.Gln628del
ENST00000663895.1:c.1883_1885del	ENSP00000499712.1:p.Gln628del
ENST00000664587.1:c.1745_1747del	ENSP00000499394.1:p.Gln582del
ENST00000665987.1:c.*1622_*1624del	ENSP00000499423.1:n.*1622_*1624del
ENST00000667521.1:c.1883_1885del	ENSP00000499665.1:p.Gln628del
ENST00000668499.1:c.*1605_*1607del	ENSP00000499626.1:n.*1605_*1607del
ENST00000668949.1:c.1721_1723del	ENSP00000499711.1:p.Gln574del
ENST00000671093.1:n.1815_1817del
ENST00000673413.1:c.*1552_*1554del	ENSP00000500600.1:n.*1552_*1554del
ENST00000332509.7:c.1883_1885del	ENSP00000333142.3:p.Gln628del
ENST00000335539.7:c.1721_1723del	ENSP00000335149.3:p.Gln574del
ENST00000402064.5:c.1721_1723del	ENSP00000386100.1:p.Gln574del
ENST00000454670.1:c.619_621del
ENST00000496409.1:n.591_593del
NM_001004426.1:c.1721_1723del	NP_001004426.1:p.Gln574del
NM_001199562.1:c.1721_1723del	NP_001186491.1:p.Gln574del
NM_003560.2:c.1883_1885del	NP_003551.2:p.Gln628del
XM_005261764.1:c.1883_1885del	XP_005261821.1:p.Gln628del
XM_005261765.1:c.1883_1885del	XP_005261822.1:p.Gln628del
XM_005261766.1:c.1883_1885del	XP_005261823.1:p.Gln628del
XM_006724332.2:c.1883_1885del	XP_006724395.1:p.Gln628del
XM_011530422.1:c.1778_1780del	XP_011528724.1:p.Gln593del
XM_011530423.1:c.1349_1351del	XP_011528725.1:p.Gln450del
XM_011530424.1:c.1349_1351del	XP_011528726.1:p.Gln450del
XM_011530425.1:c.1349_1351del	XP_011528727.1:p.Gln450del
XR_244390.1:n.2159_2161del
XR_430411.1:n.2043_2045del
XR_937937.1:n.2082_2084del
XR_937938.1:n.2245_2247del
XR_937939.1:n.2134_2136del
NM_001004426.2:c.1721_1723del	NP_001004426.1:p.Gln574del
NM_001199562.2:c.1721_1723del	NP_001186491.1:p.Gln574del
NM_001349864.1:c.1883_1885del	NP_001336793.1:p.Gln628del
NM_001349865.1:c.1721_1723del	NP_001336794.1:p.Gln574del
NM_001349866.1:c.1721_1723del	NP_001336795.1:p.Gln574del
NM_001349867.1:c.1349_1351del	NP_001336796.1:p.Gln450del
NM_001349868.1:c.1205_1207del	NP_001336797.1:p.Gln402del
NM_001349869.1:c.1187_1189del	NP_001336798.1:p.Gln396del
NM_003560.3:c.1883_1885del	NP_003551.2:p.Gln628del
XM_005261764.3:c.1883_1885del	XP_005261821.1:p.Gln628del
XM_005261765.2:c.1883_1885del	XP_005261822.1:p.Gln628del
XM_006724332.4:c.1883_1885del	XP_006724395.1:p.Gln628del
XM_017028983.1:c.1187_1189del	XP_016884472.1:p.Gln396del
XM_024452280.1:c.1349_1351del	XP_024308048.1:p.Gln450del
XM_024452281.1:c.1349_1351del	XP_024308049.1:p.Gln450del
XM_024452282.1:c.1349_1351del	XP_024308050.1:p.Gln450del
XM_024452283.1:c.1205_1207del	XP_024308051.1:p.Gln402del
XM_024452284.1:c.1187_1189del	XP_024308052.1:p.Gln396del
XM_024452285.1:c.1187_1189del	XP_024308053.1:p.Gln396del
XR_001755325.2:n.2066_2068del
XR_001755327.2:n.2061_2063del
XR_001755328.2:n.2027_2029del
XR_244390.3:n.2143_2145del
XR_937938.3:n.2229_2231del
XR_937939.3:n.2118_2120del
NM_001199562.3:c.1721_1723del	NP_001186491.1:p.Gln574del
NM_001349864.2:c.1883_1885del	NP_001336793.1:p.Gln628del
NM_001349865.2:c.1721_1723del	NP_001336794.1:p.Gln574del
NM_001349866.2:c.1721_1723del	NP_001336795.1:p.Gln574del
NM_001349867.2:c.1349_1351del	NP_001336796.1:p.Gln450del
NM_001349868.2:c.1205_1207del	NP_001336797.1:p.Gln402del
NM_001349869.2:c.1187_1189del	NP_001336798.1:p.Gln396del
NM_003560.4:c.1883_1885del MANE Select	NP_003551.2:p.Gln628del
NM_001004426.3:c.1721_1723del	NP_001004426.1:p.Gln574del