Canonical Allele Identifier: CA2594309446

Gene: PPARGC1A

Linked Data

• gnomAD v3: 4-23873215-A-AAAAAAAAAAAAAAAAAAC
• gnomAD v4: 4-23873215-A-AAAAAAAAAAAAAAAAAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23873216_23873217insAAAAAAAAAAAAAAAACA , CM000666.2:g.23873216_23873217insAAAAAAAAAAAAAAAACA	GRCh38
NC_000004.11:g.23874839_23874840insAAAAAAAAAAAAAAAACA , CM000666.1:g.23874839_23874840insAAAAAAAAAAAAAAAACA	GRCh37
NC_000004.10:g.23483937_23483938insAAAAAAAAAAAAAAAACA	NCBI36
NG_028250.1:g.21862_21863insGTTTTTTTTTTTTTTTTT
NG_028250.2:g.604760_604761insGTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.234+11536_234+11537insGTTTTTTTTTTTTTTTTT MANE Select	ENSP00000264867.2:n.234+11536_234+11537insGTTTTTTTTTTTTTTTTT
ENST00000264867.6:c.234+11536_234+11537insGTTTTTTTTTTTTTTTTT	ENSP00000264867.2:n.234+11536_234+11537insGTTTTTTTTTTTTTTTTT
ENST00000506055.5:c.234+11536_234+11537insGTTTTTTTTTTTTTTTTT	ENSP00000423075.1:n.234+11536_234+11537insGTTTTTTTTTTTTTTTTT
ENST00000507342.5:n.314+11536_314+11537insGTTTTTTTTTTTTTTTTT
ENST00000508380.1:n.154+8742_154+8743insGTTTTTTTTTTTTTTTTT
ENST00000509642.5:n.327+4498_327+4499insGTTTTTTTTTTTTTTTTT
ENST00000509702.5:n.191+8705_191+8706insGTTTTTTTTTTTTTTTTT
ENST00000512169.1:n.327+4498_327+4499insGTTTTTTTTTTTTTTTTT
ENST00000513205.5:c.234+11536_234+11537insGTTTTTTTTTTTTTTTTT	ENSP00000421632.1:n.234+11536_234+11537insGTTTTTTTTTTTTTTTTT
ENST00000515534.5:n.307-6970_307-6969insGTTTTTTTTTTTTTTTTT
ENST00000612355.1:c.222+11536_222+11537insGTTTTTTTTTTTTTTTTT	ENSP00000479729.1:n.222+11536_222+11537insGTTTTTTTTTTTTTTTTT
ENST00000613098.4:c.-148+7513_-148+7514insGTTTTTTTTTTTTTTTTT	ENSP00000481498.1:n.-148+7513_-148+7514insGTTTTTTTTTTTTTTTTT
ENST00000617484.4:c.222+11536_222+11537insGTTTTTTTTTTTTTTTTT	ENSP00000477921.1:n.222+11536_222+11537insGTTTTTTTTTTTTTTTTT
NM_013261.3:c.234+11536_234+11537insGTTTTTTTTTTTTTTTTT	NP_037393.1:n.234+11536_234+11537insGTTTTTTTTTTTTTTTTT
XM_005248130.2:c.249+11536_249+11537insGTTTTTTTTTTTTTTTTT	XP_005248187.1:n.249+11536_249+11537insGTTTTTTTTTTTTTTTTT
XM_005248131.3:c.246+11536_246+11537insGTTTTTTTTTTTTTTTTT	XP_005248188.1:n.246+11536_246+11537insGTTTTTTTTTTTTTTTTT
XM_005248132.1:c.225+11536_225+11537insGTTTTTTTTTTTTTTTTT	XP_005248189.1:n.225+11536_225+11537insGTTTTTTTTTTTTTTTTT
XM_005248134.3:c.249+11536_249+11537insGTTTTTTTTTTTTTTTTT	XP_005248191.1:n.249+11536_249+11537insGTTTTTTTTTTTTTTTTT
XM_011513764.1:c.234+11536_234+11537insGTTTTTTTTTTTTTTTTT	XP_011512066.1:n.234+11536_234+11537insGTTTTTTTTTTTTTTTTT
XM_011513765.1:c.198+11536_198+11537insGTTTTTTTTTTTTTTTTT	XP_011512067.1:n.198+11536_198+11537insGTTTTTTTTTTTTTTTTT
XM_011513766.1:c.129+4498_129+4499insGTTTTTTTTTTTTTTTTT	XP_011512068.1:n.129+4498_129+4499insGTTTTTTTTTTTTTTTTT
XM_011513767.1:c.129+4498_129+4499insGTTTTTTTTTTTTTTTTT	XP_011512069.1:n.129+4498_129+4499insGTTTTTTTTTTTTTTTTT
XM_011513768.1:c.129+4498_129+4499insGTTTTTTTTTTTTTTTTT	XP_011512070.1:n.129+4498_129+4499insGTTTTTTTTTTTTTTTTT
XM_011513769.1:c.249+11536_249+11537insGTTTTTTTTTTTTTTTTT	XP_011512071.1:n.249+11536_249+11537insGTTTTTTTTTTTTTTTTT
XM_011513770.1:c.-148+7513_-148+7514insGTTTTTTTTTTTTTTTTT	XP_011512072.1:n.-148+7513_-148+7514insGTTTTTTTTTTTTTTTTT
XM_011513771.1:c.-148+8742_-148+8743insGTTTTTTTTTTTTTTTTT	XP_011512073.1:n.-148+8742_-148+8743insGTTTTTTTTTTTTTTTTT
NM_001330751.1:c.249+11536_249+11537insGTTTTTTTTTTTTTTTTT	NP_001317680.1:n.249+11536_249+11537insGTTTTTTTTTTTTTTTTT
NM_001330752.1:c.198+11536_198+11537insGTTTTTTTTTTTTTTTTT	NP_001317681.1:n.198+11536_198+11537insGTTTTTTTTTTTTTTTTT
NM_001330753.1:c.-148+7513_-148+7514insGTTTTTTTTTTTTTTTTT	NP_001317682.1:n.-148+7513_-148+7514insGTTTTTTTTTTTTTTTTT
NM_001354825.1:c.249+11536_249+11537insGTTTTTTTTTTTTTTTTT	NP_001341754.1:n.249+11536_249+11537insGTTTTTTTTTTTTTTTTT
NM_001354826.1:c.-148+11095_-148+11096insGTTTTTTTTTTTTTTTTT	NP_001341755.1:n.-148+11095_-148+11096insGTTTTTTTTTTTTTTTTT
NM_001354827.1:c.249+11536_249+11537insGTTTTTTTTTTTTTTTTT	NP_001341756.1:n.249+11536_249+11537insGTTTTTTTTTTTTTTTTT
NM_013261.4:c.234+11536_234+11537insGTTTTTTTTTTTTTTTTT	NP_037393.1:n.234+11536_234+11537insGTTTTTTTTTTTTTTTTT
NR_148981.1:n.700+11536_700+11537insGTTTTTTTTTTTTTTTTT
NR_148982.1:n.803+11536_803+11537insGTTTTTTTTTTTTTTTTT
NR_148983.1:n.956+4498_956+4499insGTTTTTTTTTTTTTTTTT
NR_148984.1:n.354+11536_354+11537insGTTTTTTTTTTTTTTTTT
NR_148985.1:n.868+11536_868+11537insGTTTTTTTTTTTTTTTTT
NR_148986.1:n.700+11536_700+11537insGTTTTTTTTTTTTTTTTT
NR_148987.1:n.700+11536_700+11537insGTTTTTTTTTTTTTTTTT
XM_005248131.5:c.246+11536_246+11537insGTTTTTTTTTTTTTTTTT	XP_005248188.1:n.246+11536_246+11537insGTTTTTTTTTTTTTTTTT
XM_005248134.4:c.249+11536_249+11537insGTTTTTTTTTTTTTTTTT	XP_005248191.1:n.249+11536_249+11537insGTTTTTTTTTTTTTTTTT
XM_011513769.2:c.249+11536_249+11537insGTTTTTTTTTTTTTTTTT	XP_011512071.1:n.249+11536_249+11537insGTTTTTTTTTTTTTTTTT
XM_024453878.1:c.249+11536_249+11537insGTTTTTTTTTTTTTTTTT	XP_024309646.1:n.249+11536_249+11537insGTTTTTTTTTTTTTTTTT
NM_013261.5:c.234+11536_234+11537insGTTTTTTTTTTTTTTTTT MANE Select	NP_037393.1:n.234+11536_234+11537insGTTTTTTTTTTTTTTTTT
NM_001330751.2:c.249+11536_249+11537insGTTTTTTTTTTTTTTTTT	NP_001317680.1:n.249+11536_249+11537insGTTTTTTTTTTTTTTTTT
NM_001330752.2:c.198+11536_198+11537insGTTTTTTTTTTTTTTTTT	NP_001317681.1:n.198+11536_198+11537insGTTTTTTTTTTTTTTTTT
NM_001354825.2:c.249+11536_249+11537insGTTTTTTTTTTTTTTTTT	NP_001341754.1:n.249+11536_249+11537insGTTTTTTTTTTTTTTTTT
NM_001354826.2:c.-148+11095_-148+11096insGTTTTTTTTTTTTTTTTT	NP_001341755.1:n.-148+11095_-148+11096insGTTTTTTTTTTTTTTTTT
NM_001354827.2:c.249+11536_249+11537insGTTTTTTTTTTTTTTTTT	NP_001341756.1:n.249+11536_249+11537insGTTTTTTTTTTTTTTTTT
NR_148981.2:n.776+11536_776+11537insGTTTTTTTTTTTTTTTTT
NR_148982.2:n.879+11536_879+11537insGTTTTTTTTTTTTTTTTT
NR_148983.2:n.1032+4498_1032+4499insGTTTTTTTTTTTTTTTTT
NR_148984.2:n.324+11536_324+11537insGTTTTTTTTTTTTTTTTT
NR_148985.2:n.944+11536_944+11537insGTTTTTTTTTTTTTTTTT
NR_148986.2:n.776+11536_776+11537insGTTTTTTTTTTTTTTTTT
NR_148987.2:n.776+11536_776+11537insGTTTTTTTTTTTTTTTTT
NM_001330753.2:c.-148+7513_-148+7514insGTTTTTTTTTTTTTTTTT	NP_001317682.1:n.-148+7513_-148+7514insGTTTTTTTTTTTTTTTTT