Canonical Allele Identifier: CA2556559029
Gene: PPARG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12416960_12416961insTT , CM000665.2:g.12416960_12416961insTT GRCh38
NC_000003.11:g.12458459_12458460insTT , CM000665.1:g.12458459_12458460insTT GRCh37
NC_000003.10:g.12433459_12433460insTT NCBI36
NG_011749.1:g.134111_134112insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000681966.1:c.*240_*241insTT ENSP00000507572.1:n.*240_*241insTT
ENST00000681982.1:c.986_987insTT ENSP00000508065.1:p.Leu331ProfsTer2
ENST00000682125.1:n.1031_1032insTT
ENST00000682446.1:c.986_987insTT ENSP00000506813.1:p.Leu331ProfsTer2
ENST00000682494.1:n.3886_3887insTT
ENST00000682604.1:n.1229_1230insTT
ENST00000683586.1:c.986_987insTT ENSP00000507893.1:p.Leu331ProfsTer2
ENST00000683599.1:n.35_36insTT
ENST00000683699.1:c.819+10879_819+10880insTT ENSP00000507823.1:n.819+10879_819+10880insTT
ENST00000683700.1:c.839_840insTT ENSP00000508248.1:p.Leu282ProfsTer2
ENST00000684065.1:c.*466+10879_*466+10880insTT ENSP00000508347.1:n.*466+10879_*466+10880insTT
ENST00000684094.1:n.1628_1629insTT
ENST00000309576.11:c.986_987insTT ENSP00000312472.7:p.Leu331ProfsTer2
ENST00000396999.3:c.*574_*575insTT ENSP00000380195.3:n.*574_*575insTT
ENST00000397000.6:c.729+10879_729+10880insTT ENSP00000380196.2:n.729+10879_729+10880insTT
ENST00000397010.7:c.986_987insTT ENSP00000380205.3:p.Leu331ProfsTer2
ENST00000397015.7:c.986_987insTT ENSP00000380210.3:p.Leu331ProfsTer2
ENST00000397026.7:c.986_987insTT ENSP00000380221.3:p.Leu331ProfsTer2
ENST00000643197.2:c.986_987insTT ENSP00000495840.2:p.Leu331ProfsTer2
ENST00000643888.2:c.986_987insTT ENSP00000494934.2:p.Leu331ProfsTer2
ENST00000644622.2:c.986_987insTT ENSP00000494873.2:p.Leu331ProfsTer2
ENST00000651735.1:c.986_987insTT MANE Select ENSP00000498313.1:p.Leu331ProfsTer2
ENST00000652098.1:c.440_441insTT ENSP00000498300.1:p.Leu149ProfsTer2
ENST00000652431.1:c.674_675insTT ENSP00000498717.1:p.Leu227ProfsTer2
ENST00000652522.1:c.986_987insTT ENSP00000498500.1:p.Leu331ProfsTer2
ENST00000287820.10:c.1076_1077insTT ENSP00000287820.6:p.Leu361ProfsTer2
ENST00000309576.10:c.992_993insTT ENSP00000312472.6:p.Leu333ProfsTer2
ENST00000396999.2:c.1135_1136insTT ENSP00000380195.2:n.1135_1136insTT
ENST00000397000.5:c.735+10879_735+10880insTT ENSP00000380196.1:n.735+10879_735+10880insTT
ENST00000397010.6:c.992_993insTT ENSP00000380205.2:p.Leu333ProfsTer2
ENST00000397012.6:c.992_993insTT ENSP00000380207.2:p.Leu333ProfsTer2
ENST00000397015.6:c.992_993insTT ENSP00000380210.2:p.Leu333ProfsTer2
ENST00000397023.5:c.*1214_*1215insTT ENSP00000380218.1:n.*1214_*1215insTT
ENST00000397026.6:c.1010_1011insTT ENSP00000380221.2:p.Leu339ProfsTer2
NM_005037.5:c.992_993insTT NP_005028.4:p.Leu333ProfsTer2
NM_015869.4:c.1076_1077insTT NP_056953.2:p.Leu361ProfsTer2
NM_138711.3:c.992_993insTT NP_619725.2:p.Leu333ProfsTer2
NM_138712.3:c.992_993insTT NP_619726.2:p.Leu333ProfsTer2
XM_011533840.1:c.992_993insTT XP_011532142.1:p.Leu333ProfsTer2
XM_011533841.1:c.992_993insTT XP_011532143.1:p.Leu333ProfsTer2
XM_011533842.1:c.1076_1077insTT XP_011532144.1:p.Leu361ProfsTer2
XM_011533843.1:c.819+10879_819+10880insTT XP_011532145.1:n.819+10879_819+10880insTT
XM_011533844.1:c.735+10879_735+10880insTT XP_011532146.1:n.735+10879_735+10880insTT
NM_001330615.1:c.735+10879_735+10880insTT NP_001317544.1:n.735+10879_735+10880insTT
NM_001354666.1:c.992_993insTT NP_001341595.1:p.Leu333ProfsTer2
NM_001354667.1:c.992_993insTT NP_001341596.1:p.Leu333ProfsTer2
NM_001354669.1:c.359_360insTT NP_001341598.1:p.Leu122ProfsTer2
XM_011533842.2:c.1076_1077insTT XP_011532144.1:p.Leu361ProfsTer2
XM_011533843.2:c.819+10879_819+10880insTT XP_011532145.1:n.819+10879_819+10880insTT
XM_024453604.1:c.992_993insTT XP_024309372.1:p.Leu333ProfsTer2
XM_024453605.1:c.992_993insTT XP_024309373.1:p.Leu333ProfsTer2
XM_024453606.1:c.992_993insTT XP_024309374.1:p.Leu333ProfsTer2
NM_001330615.2:c.735+10879_735+10880insTT NP_001317544.1:n.735+10879_735+10880insTT
NM_001354666.2:c.992_993insTT NP_001341595.1:p.Leu333ProfsTer2
NM_001354667.2:c.992_993insTT NP_001341596.1:p.Leu333ProfsTer2
NM_001354669.2:c.359_360insTT NP_001341598.1:p.Leu122ProfsTer2
NM_001374261.1:c.735+10879_735+10880insTT NP_001361190.1:n.735+10879_735+10880insTT
NM_001374262.1:c.735+10879_735+10880insTT NP_001361191.1:n.735+10879_735+10880insTT
NM_001374263.1:c.992_993insTT NP_001361192.1:p.Leu333ProfsTer2
NM_001374264.1:c.992_993insTT NP_001361193.1:p.Leu333ProfsTer2
NM_001374265.1:c.819+10879_819+10880insTT NP_001361194.1:n.819+10879_819+10880insTT
NM_001374266.1:c.653+10961_653+10962insTT NP_001361195.1:n.653+10961_653+10962insTT
NM_005037.6:c.992_993insTT NP_005028.4:p.Leu333ProfsTer2
NM_015869.5:c.1076_1077insTT NP_056953.2:p.Leu361ProfsTer2
NM_138711.4:c.992_993insTT NP_619725.2:p.Leu333ProfsTer2
NM_138712.4:c.992_993insTT NP_619726.2:p.Leu333ProfsTer2
NM_001330615.4:c.729+10879_729+10880insTT NP_001317544.2:n.729+10879_729+10880insTT
NM_001354666.3:c.986_987insTT NP_001341595.2:p.Leu331ProfsTer2
NM_001354667.3:c.986_987insTT NP_001341596.2:p.Leu331ProfsTer2
NM_001374261.3:c.729+10879_729+10880insTT NP_001361190.2:n.729+10879_729+10880insTT
NM_001374262.3:c.729+10879_729+10880insTT NP_001361191.2:n.729+10879_729+10880insTT
NM_001374263.2:c.986_987insTT NP_001361192.2:p.Leu331ProfsTer2
NM_001374264.2:c.986_987insTT NP_001361193.2:p.Leu331ProfsTer2
NM_005037.7:c.986_987insTT NP_005028.5:p.Leu331ProfsTer2
NM_138711.6:c.986_987insTT MANE Select NP_619725.3:p.Leu331ProfsTer2
NM_138712.5:c.986_987insTT NP_619726.3:p.Leu331ProfsTer2