Canonical Allele Identifier: CA1346140687
Gene: PPARG HGNC NCBI

Linked Data

dbSNP Id: rs2051081339

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12416934_12416938dup , CM000665.2:g.12416934_12416938dup GRCh38
NC_000003.11:g.12458433_12458437dup , CM000665.1:g.12458433_12458437dup GRCh37
NC_000003.10:g.12433433_12433437dup NCBI36
NG_011749.1:g.134085_134089dup

Transcript Alleles

HGVS Amino-acid change
ENST00000681966.1:c.*214_*218dup ENSP00000507572.1:n.*214_*218dup
ENST00000681982.1:c.960_964dup ENSP00000508065.1:p.Glu322AlafsTer12
ENST00000682125.1:n.1005_1009dup
ENST00000682446.1:c.960_964dup ENSP00000506813.1:p.Glu322AlafsTer12
ENST00000682494.1:n.3860_3864dup
ENST00000682604.1:n.1203_1207dup
ENST00000683586.1:c.960_964dup ENSP00000507893.1:p.Glu322AlafsTer12
ENST00000683599.1:n.9_13dup
ENST00000683699.1:c.819+10853_819+10857dup ENSP00000507823.1:n.819+10853_819+10857du...
ENST00000683700.1:c.813_817dup ENSP00000508248.1:p.Glu273AlafsTer12
ENST00000684065.1:c.*466+10853_*466+10857dup ENSP00000508347.1:n.*466+10853_*466+10857...
ENST00000684094.1:n.1602_1606dup
ENST00000309576.11:c.960_964dup ENSP00000312472.7:p.Glu322AlafsTer12
ENST00000396999.3:c.*548_*552dup ENSP00000380195.3:n.*548_*552dup
ENST00000397000.6:c.729+10853_729+10857dup ENSP00000380196.2:n.729+10853_729+10857du...
ENST00000397010.7:c.960_964dup ENSP00000380205.3:p.Glu322AlafsTer12
ENST00000397015.7:c.960_964dup ENSP00000380210.3:p.Glu322AlafsTer12
ENST00000397026.7:c.960_964dup ENSP00000380221.3:p.Glu322AlafsTer12
ENST00000643197.2:c.960_964dup ENSP00000495840.2:p.Glu322AlafsTer12
ENST00000643888.2:c.960_964dup ENSP00000494934.2:p.Glu322AlafsTer12
ENST00000644622.2:c.960_964dup ENSP00000494873.2:p.Glu322AlafsTer12
ENST00000651735.1:c.960_964dup MANE Select ENSP00000498313.1:p.Glu322AlafsTer12
ENST00000652098.1:c.414_418dup ENSP00000498300.1:p.Glu140AlafsTer12
ENST00000652431.1:c.648_652dup ENSP00000498717.1:p.Glu218AlafsTer12
ENST00000652522.1:c.960_964dup ENSP00000498500.1:p.Glu322AlafsTer12
ENST00000287820.10:c.1050_1054dup ENSP00000287820.6:p.Glu352AlafsTer12
ENST00000309576.10:c.966_970dup ENSP00000312472.6:p.Glu324AlafsTer12
ENST00000396999.2:c.1109_1113dup ENSP00000380195.2:n.1109_1113dup
ENST00000397000.5:c.735+10853_735+10857dup ENSP00000380196.1:n.735+10853_735+10857du...
ENST00000397010.6:c.966_970dup ENSP00000380205.2:p.Glu324AlafsTer12
ENST00000397012.6:c.966_970dup ENSP00000380207.2:p.Glu324AlafsTer12
ENST00000397015.6:c.966_970dup ENSP00000380210.2:p.Glu324AlafsTer12
ENST00000397023.5:c.*1188_*1192dup ENSP00000380218.1:n.*1188_*1192dup
ENST00000397026.6:c.984_988dup ENSP00000380221.2:p.Glu330AlafsTer12
NM_005037.5:c.966_970dup NP_005028.4:p.Glu324AlafsTer12
NM_015869.4:c.1050_1054dup NP_056953.2:p.Glu352AlafsTer12
NM_138711.3:c.966_970dup NP_619725.2:p.Glu324AlafsTer12
NM_138712.3:c.966_970dup NP_619726.2:p.Glu324AlafsTer12
XM_011533840.1:c.966_970dup XP_011532142.1:p.Glu324AlafsTer12
XM_011533841.1:c.966_970dup XP_011532143.1:p.Glu324AlafsTer12
XM_011533842.1:c.1050_1054dup XP_011532144.1:p.Glu352AlafsTer12
XM_011533843.1:c.819+10853_819+10857dup XP_011532145.1:n.819+10853_819+10857dup
XM_011533844.1:c.735+10853_735+10857dup XP_011532146.1:n.735+10853_735+10857dup
NM_001330615.1:c.735+10853_735+10857dup NP_001317544.1:n.735+10853_735+10857dup
NM_001354666.1:c.966_970dup NP_001341595.1:p.Glu324AlafsTer12
NM_001354667.1:c.966_970dup NP_001341596.1:p.Glu324AlafsTer12
NM_001354669.1:c.333_337dup NP_001341598.1:p.Glu113AlafsTer12
XM_011533842.2:c.1050_1054dup XP_011532144.1:p.Glu352AlafsTer12
XM_011533843.2:c.819+10853_819+10857dup XP_011532145.1:n.819+10853_819+10857dup
XM_024453604.1:c.966_970dup XP_024309372.1:p.Glu324AlafsTer12
XM_024453605.1:c.966_970dup XP_024309373.1:p.Glu324AlafsTer12
XM_024453606.1:c.966_970dup XP_024309374.1:p.Glu324AlafsTer12
NM_001330615.2:c.735+10853_735+10857dup NP_001317544.1:n.735+10853_735+10857dup
NM_001354666.2:c.966_970dup NP_001341595.1:p.Glu324AlafsTer12
NM_001354667.2:c.966_970dup NP_001341596.1:p.Glu324AlafsTer12
NM_001354669.2:c.333_337dup NP_001341598.1:p.Glu113AlafsTer12
NM_001374261.1:c.735+10853_735+10857dup NP_001361190.1:n.735+10853_735+10857dup
NM_001374262.1:c.735+10853_735+10857dup NP_001361191.1:n.735+10853_735+10857dup
NM_001374263.1:c.966_970dup NP_001361192.1:p.Glu324AlafsTer12
NM_001374264.1:c.966_970dup NP_001361193.1:p.Glu324AlafsTer12
NM_001374265.1:c.819+10853_819+10857dup NP_001361194.1:n.819+10853_819+10857dup
NM_001374266.1:c.653+10935_653+10939dup NP_001361195.1:n.653+10935_653+10939dup
NM_005037.6:c.966_970dup NP_005028.4:p.Glu324AlafsTer12
NM_015869.5:c.1050_1054dup NP_056953.2:p.Glu352AlafsTer12
NM_138711.4:c.966_970dup NP_619725.2:p.Glu324AlafsTer12
NM_138712.4:c.966_970dup NP_619726.2:p.Glu324AlafsTer12
NM_001330615.4:c.729+10853_729+10857dup NP_001317544.2:n.729+10853_729+10857dup
NM_001354666.3:c.960_964dup NP_001341595.2:p.Glu322AlafsTer12
NM_001354667.3:c.960_964dup NP_001341596.2:p.Glu322AlafsTer12
NM_001374261.3:c.729+10853_729+10857dup NP_001361190.2:n.729+10853_729+10857dup
NM_001374262.3:c.729+10853_729+10857dup NP_001361191.2:n.729+10853_729+10857dup
NM_001374263.2:c.960_964dup NP_001361192.2:p.Glu322AlafsTer12
NM_001374264.2:c.960_964dup NP_001361193.2:p.Glu322AlafsTer12
NM_005037.7:c.960_964dup NP_005028.5:p.Glu322AlafsTer12
NM_138711.6:c.960_964dup MANE Select NP_619725.3:p.Glu322AlafsTer12
NM_138712.5:c.960_964dup NP_619726.3:p.Glu322AlafsTer12