Canonical Allele Identifier: CA1060222158

Gene: PPARGC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23873235_23873236insAAAAAAAATGA , CM000666.2:g.23873235_23873236insAAAAAAAATGA	GRCh38
NC_000004.11:g.23874858_23874859insAAAAAAAATGA , CM000666.1:g.23874858_23874859insAAAAAAAATGA	GRCh37
NC_000004.10:g.23483956_23483957insAAAAAAAATGA	NCBI36
NG_028250.1:g.21843_21844insCATTTTTTTTT
NG_028250.2:g.604741_604742insCATTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.234+11517_234+11518insCATTTTTTTTT MANE Select	ENSP00000264867.2:n.234+11517_234+11518insCATTTTTTTTT
ENST00000264867.6:c.234+11517_234+11518insCATTTTTTTTT	ENSP00000264867.2:n.234+11517_234+11518insCATTTTTTTTT
ENST00000506055.5:c.234+11517_234+11518insCATTTTTTTTT	ENSP00000423075.1:n.234+11517_234+11518insCATTTTTTTTT
ENST00000507342.5:n.314+11517_314+11518insCATTTTTTTTT
ENST00000508380.1:n.154+8723_154+8724insCATTTTTTTTT
ENST00000509642.5:n.327+4479_327+4480insCATTTTTTTTT
ENST00000509702.5:n.191+8686_191+8687insCATTTTTTTTT
ENST00000512169.1:n.327+4479_327+4480insCATTTTTTTTT
ENST00000513205.5:c.234+11517_234+11518insCATTTTTTTTT	ENSP00000421632.1:n.234+11517_234+11518insCATTTTTTTTT
ENST00000515534.5:n.307-6989_307-6988insCATTTTTTTTT
ENST00000612355.1:c.222+11517_222+11518insCATTTTTTTTT	ENSP00000479729.1:n.222+11517_222+11518insCATTTTTTTTT
ENST00000613098.4:c.-148+7494_-148+7495insCATTTTTTTTT	ENSP00000481498.1:n.-148+7494_-148+7495insCATTTTTTTTT
ENST00000617484.4:c.222+11517_222+11518insCATTTTTTTTT	ENSP00000477921.1:n.222+11517_222+11518insCATTTTTTTTT
NM_013261.3:c.234+11517_234+11518insCATTTTTTTTT	NP_037393.1:n.234+11517_234+11518insCATTTTTTTTT
XM_005248130.2:c.249+11517_249+11518insCATTTTTTTTT	XP_005248187.1:n.249+11517_249+11518insCATTTTTTTTT
XM_005248131.3:c.246+11517_246+11518insCATTTTTTTTT	XP_005248188.1:n.246+11517_246+11518insCATTTTTTTTT
XM_005248132.1:c.225+11517_225+11518insCATTTTTTTTT	XP_005248189.1:n.225+11517_225+11518insCATTTTTTTTT
XM_005248134.3:c.249+11517_249+11518insCATTTTTTTTT	XP_005248191.1:n.249+11517_249+11518insCATTTTTTTTT
XM_011513764.1:c.234+11517_234+11518insCATTTTTTTTT	XP_011512066.1:n.234+11517_234+11518insCATTTTTTTTT
XM_011513765.1:c.198+11517_198+11518insCATTTTTTTTT	XP_011512067.1:n.198+11517_198+11518insCATTTTTTTTT
XM_011513766.1:c.129+4479_129+4480insCATTTTTTTTT	XP_011512068.1:n.129+4479_129+4480insCATTTTTTTTT
XM_011513767.1:c.129+4479_129+4480insCATTTTTTTTT	XP_011512069.1:n.129+4479_129+4480insCATTTTTTTTT
XM_011513768.1:c.129+4479_129+4480insCATTTTTTTTT	XP_011512070.1:n.129+4479_129+4480insCATTTTTTTTT
XM_011513769.1:c.249+11517_249+11518insCATTTTTTTTT	XP_011512071.1:n.249+11517_249+11518insCATTTTTTTTT
XM_011513770.1:c.-148+7494_-148+7495insCATTTTTTTTT	XP_011512072.1:n.-148+7494_-148+7495insCATTTTTTTTT
XM_011513771.1:c.-148+8723_-148+8724insCATTTTTTTTT	XP_011512073.1:n.-148+8723_-148+8724insCATTTTTTTTT
NM_001330751.1:c.249+11517_249+11518insCATTTTTTTTT	NP_001317680.1:n.249+11517_249+11518insCATTTTTTTTT
NM_001330752.1:c.198+11517_198+11518insCATTTTTTTTT	NP_001317681.1:n.198+11517_198+11518insCATTTTTTTTT
NM_001330753.1:c.-148+7494_-148+7495insCATTTTTTTTT	NP_001317682.1:n.-148+7494_-148+7495insCATTTTTTTTT
NM_001354825.1:c.249+11517_249+11518insCATTTTTTTTT	NP_001341754.1:n.249+11517_249+11518insCATTTTTTTTT
NM_001354826.1:c.-148+11076_-148+11077insCATTTTTTTTT	NP_001341755.1:n.-148+11076_-148+11077insCATTTTTTTTT
NM_001354827.1:c.249+11517_249+11518insCATTTTTTTTT	NP_001341756.1:n.249+11517_249+11518insCATTTTTTTTT
NM_013261.4:c.234+11517_234+11518insCATTTTTTTTT	NP_037393.1:n.234+11517_234+11518insCATTTTTTTTT
NR_148981.1:n.700+11517_700+11518insCATTTTTTTTT
NR_148982.1:n.803+11517_803+11518insCATTTTTTTTT
NR_148983.1:n.956+4479_956+4480insCATTTTTTTTT
NR_148984.1:n.354+11517_354+11518insCATTTTTTTTT
NR_148985.1:n.868+11517_868+11518insCATTTTTTTTT
NR_148986.1:n.700+11517_700+11518insCATTTTTTTTT
NR_148987.1:n.700+11517_700+11518insCATTTTTTTTT
XM_005248131.5:c.246+11517_246+11518insCATTTTTTTTT	XP_005248188.1:n.246+11517_246+11518insCATTTTTTTTT
XM_005248134.4:c.249+11517_249+11518insCATTTTTTTTT	XP_005248191.1:n.249+11517_249+11518insCATTTTTTTTT
XM_011513769.2:c.249+11517_249+11518insCATTTTTTTTT	XP_011512071.1:n.249+11517_249+11518insCATTTTTTTTT
XM_024453878.1:c.249+11517_249+11518insCATTTTTTTTT	XP_024309646.1:n.249+11517_249+11518insCATTTTTTTTT
NM_013261.5:c.234+11517_234+11518insCATTTTTTTTT MANE Select	NP_037393.1:n.234+11517_234+11518insCATTTTTTTTT
NM_001330751.2:c.249+11517_249+11518insCATTTTTTTTT	NP_001317680.1:n.249+11517_249+11518insCATTTTTTTTT
NM_001330752.2:c.198+11517_198+11518insCATTTTTTTTT	NP_001317681.1:n.198+11517_198+11518insCATTTTTTTTT
NM_001354825.2:c.249+11517_249+11518insCATTTTTTTTT	NP_001341754.1:n.249+11517_249+11518insCATTTTTTTTT
NM_001354826.2:c.-148+11076_-148+11077insCATTTTTTTTT	NP_001341755.1:n.-148+11076_-148+11077insCATTTTTTTTT
NM_001354827.2:c.249+11517_249+11518insCATTTTTTTTT	NP_001341756.1:n.249+11517_249+11518insCATTTTTTTTT
NR_148981.2:n.776+11517_776+11518insCATTTTTTTTT
NR_148982.2:n.879+11517_879+11518insCATTTTTTTTT
NR_148983.2:n.1032+4479_1032+4480insCATTTTTTTTT
NR_148984.2:n.324+11517_324+11518insCATTTTTTTTT
NR_148985.2:n.944+11517_944+11518insCATTTTTTTTT
NR_148986.2:n.776+11517_776+11518insCATTTTTTTTT
NR_148987.2:n.776+11517_776+11518insCATTTTTTTTT
NM_001330753.2:c.-148+7494_-148+7495insCATTTTTTTTT	NP_001317682.1:n.-148+7494_-148+7495insCATTTTTTTTT