Canonical Allele Identifier: CA645372718

Gene: PPARG

Linked Data

• ClinVar Variation Id: 436400
• ClinVar RCV Id: RCV000499764
• dbSNP Id: rs1553650477
• MyVariant Identifiers: chr3:g.12458397_12458401del (hg19) ; chr3:g.12416898_12416902del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12416898_12416902del , CM000665.2:g.12416898_12416902del	GRCh38
NC_000003.11:g.12458397_12458401del , CM000665.1:g.12458397_12458401del	GRCh37
NC_000003.10:g.12433397_12433401del	NCBI36
NG_011749.1:g.134049_134053del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681966.1:c.*178_*182del	ENSP00000507572.1:n.*178_*182del
ENST00000681982.1:c.924_928del	ENSP00000508065.1:p.Asp308GlufsTer25
ENST00000682125.1:n.969_973del
ENST00000682446.1:c.924_928del	ENSP00000506813.1:p.Asp308GlufsTer25
ENST00000682494.1:n.3824_3828del
ENST00000682604.1:n.1167_1171del
ENST00000683586.1:c.924_928del	ENSP00000507893.1:p.Asp308GlufsTer25
ENST00000683699.1:c.819+10817_819+10821del	ENSP00000507823.1:n.819+10817_819+10821del
ENST00000683700.1:c.777_781del	ENSP00000508248.1:p.Asp259GlufsTer25
ENST00000684065.1:c.*466+10817_*466+10821del	ENSP00000508347.1:n.*466+10817_*466+10821del
ENST00000684094.1:n.1566_1570del
ENST00000309576.11:c.924_928del	ENSP00000312472.7:p.Asp308GlufsTer25
ENST00000396999.3:c.*512_*516del	ENSP00000380195.3:n.*512_*516del
ENST00000397000.6:c.729+10817_729+10821del	ENSP00000380196.2:n.729+10817_729+10821del
ENST00000397010.7:c.924_928del	ENSP00000380205.3:p.Asp308GlufsTer25
ENST00000397015.7:c.924_928del	ENSP00000380210.3:p.Asp308GlufsTer25
ENST00000397026.7:c.924_928del	ENSP00000380221.3:p.Asp308GlufsTer25
ENST00000643197.2:c.924_928del	ENSP00000495840.2:p.Asp308GlufsTer25
ENST00000643888.2:c.924_928del	ENSP00000494934.2:p.Asp308GlufsTer25
ENST00000644622.2:c.924_928del	ENSP00000494873.2:p.Asp308GlufsTer25
ENST00000651735.1:c.924_928del MANE Select	ENSP00000498313.1:p.Asp308GlufsTer25
ENST00000652098.1:c.378_382del	ENSP00000498300.1:p.Asp126GlufsTer25
ENST00000652431.1:c.612_616del	ENSP00000498717.1:p.Asp204GlufsTer25
ENST00000652522.1:c.924_928del	ENSP00000498500.1:p.Asp308GlufsTer25
ENST00000287820.10:c.1014_1018del	ENSP00000287820.6:p.Asp338GlufsTer25
ENST00000309576.10:c.930_934del	ENSP00000312472.6:p.Asp310GlufsTer25
ENST00000396999.2:c.1073_1077del	ENSP00000380195.2:n.1073_1077del
ENST00000397000.5:c.735+10817_735+10821del	ENSP00000380196.1:n.735+10817_735+10821del
ENST00000397010.6:c.930_934del	ENSP00000380205.2:p.Asp310GlufsTer25
ENST00000397012.6:c.930_934del	ENSP00000380207.2:p.Asp310GlufsTer25
ENST00000397015.6:c.930_934del	ENSP00000380210.2:p.Asp310GlufsTer25
ENST00000397023.5:c.*1152_*1156del	ENSP00000380218.1:n.*1152_*1156del
ENST00000397026.6:c.948_952del	ENSP00000380221.2:p.Asp316GlufsTer25
NM_005037.5:c.930_934del	NP_005028.4:p.Asp310GlufsTer25
NM_015869.4:c.1014_1018del	NP_056953.2:p.Asp338GlufsTer25
NM_138711.3:c.930_934del	NP_619725.2:p.Asp310GlufsTer25
NM_138712.3:c.930_934del	NP_619726.2:p.Asp310GlufsTer25
XM_011533840.1:c.930_934del	XP_011532142.1:p.Asp310GlufsTer25
XM_011533841.1:c.930_934del	XP_011532143.1:p.Asp310GlufsTer25
XM_011533842.1:c.1014_1018del	XP_011532144.1:p.Asp338GlufsTer25
XM_011533843.1:c.819+10817_819+10821del	XP_011532145.1:n.819+10817_819+10821del
XM_011533844.1:c.735+10817_735+10821del	XP_011532146.1:n.735+10817_735+10821del
NM_001330615.1:c.735+10817_735+10821del	NP_001317544.1:n.735+10817_735+10821del
NM_001354666.1:c.930_934del	NP_001341595.1:p.Asp310GlufsTer25
NM_001354667.1:c.930_934del	NP_001341596.1:p.Asp310GlufsTer25
NM_001354669.1:c.297_301del	NP_001341598.1:p.Asp99GlufsTer25
XM_011533842.2:c.1014_1018del	XP_011532144.1:p.Asp338GlufsTer25
XM_011533843.2:c.819+10817_819+10821del	XP_011532145.1:n.819+10817_819+10821del
XM_024453604.1:c.930_934del	XP_024309372.1:p.Asp310GlufsTer25
XM_024453605.1:c.930_934del	XP_024309373.1:p.Asp310GlufsTer25
XM_024453606.1:c.930_934del	XP_024309374.1:p.Asp310GlufsTer25
NM_001330615.2:c.735+10817_735+10821del	NP_001317544.1:n.735+10817_735+10821del
NM_001354666.2:c.930_934del	NP_001341595.1:p.Asp310GlufsTer25
NM_001354667.2:c.930_934del	NP_001341596.1:p.Asp310GlufsTer25
NM_001354669.2:c.297_301del	NP_001341598.1:p.Asp99GlufsTer25
NM_001374261.1:c.735+10817_735+10821del	NP_001361190.1:n.735+10817_735+10821del
NM_001374262.1:c.735+10817_735+10821del	NP_001361191.1:n.735+10817_735+10821del
NM_001374263.1:c.930_934del	NP_001361192.1:p.Asp310GlufsTer25
NM_001374264.1:c.930_934del	NP_001361193.1:p.Asp310GlufsTer25
NM_001374265.1:c.819+10817_819+10821del	NP_001361194.1:n.819+10817_819+10821del
NM_001374266.1:c.653+10899_653+10903del	NP_001361195.1:n.653+10899_653+10903del
NM_005037.6:c.930_934del	NP_005028.4:p.Asp310GlufsTer25
NM_015869.5:c.1014_1018del	NP_056953.2:p.Asp338GlufsTer25
NM_138711.4:c.930_934del	NP_619725.2:p.Asp310GlufsTer25
NM_138712.4:c.930_934del	NP_619726.2:p.Asp310GlufsTer25
NM_001330615.4:c.729+10817_729+10821del	NP_001317544.2:n.729+10817_729+10821del
NM_001354666.3:c.924_928del	NP_001341595.2:p.Asp308GlufsTer25
NM_001354667.3:c.924_928del	NP_001341596.2:p.Asp308GlufsTer25
NM_001374261.3:c.729+10817_729+10821del	NP_001361190.2:n.729+10817_729+10821del
NM_001374262.3:c.729+10817_729+10821del	NP_001361191.2:n.729+10817_729+10821del
NM_001374263.2:c.924_928del	NP_001361192.2:p.Asp308GlufsTer25
NM_001374264.2:c.924_928del	NP_001361193.2:p.Asp308GlufsTer25
NM_005037.7:c.924_928del	NP_005028.5:p.Asp308GlufsTer25
NM_138711.6:c.924_928del MANE Select	NP_619725.3:p.Asp308GlufsTer25
NM_138712.5:c.924_928del	NP_619726.3:p.Asp308GlufsTer25