Canonical Allele Identifier: CA1060221897

Gene: PPARGC1A

Linked Data

• gnomAD v3: 4-23873211-A-AAAAAAAAAAAAAAAAAAAAG
• gnomAD v4: 4-23873211-A-AAAAAAAAAAAAAAAAAAAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23873216_23873217insAAAAAAAAAAAAAAGAAAAA , CM000666.2:g.23873216_23873217insAAAAAAAAAAAAAAGAAAAA	GRCh38
NC_000004.11:g.23874839_23874840insAAAAAAAAAAAAAAGAAAAA , CM000666.1:g.23874839_23874840insAAAAAAAAAAAAAAGAAAAA	GRCh37
NC_000004.10:g.23483937_23483938insAAAAAAAAAAAAAAGAAAAA	NCBI36
NG_028250.1:g.21866_21867insCTTTTTTTTTTTTTTTTTTT
NG_028250.2:g.604764_604765insCTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.234+11540_234+11541insCTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000264867.2:n.234+11540_234+11541insCTTTTTTTTTTTTTTTTTT...
ENST00000264867.6:c.234+11540_234+11541insCTTTTTTTTTTTTTTTTTTT	ENSP00000264867.2:n.234+11540_234+11541insCTTTTTTTTTTTTTTTTTT...
ENST00000506055.5:c.234+11540_234+11541insCTTTTTTTTTTTTTTTTTTT	ENSP00000423075.1:n.234+11540_234+11541insCTTTTTTTTTTTTTTTTTT...
ENST00000507342.5:n.314+11540_314+11541insCTTTTTTTTTTTTTTTTTTT
ENST00000508380.1:n.154+8746_154+8747insCTTTTTTTTTTTTTTTTTTT
ENST00000509642.5:n.327+4502_327+4503insCTTTTTTTTTTTTTTTTTTT
ENST00000509702.5:n.191+8709_191+8710insCTTTTTTTTTTTTTTTTTTT
ENST00000512169.1:n.327+4502_327+4503insCTTTTTTTTTTTTTTTTTTT
ENST00000513205.5:c.234+11540_234+11541insCTTTTTTTTTTTTTTTTTTT	ENSP00000421632.1:n.234+11540_234+11541insCTTTTTTTTTTTTTTTTTT...
ENST00000515534.5:n.307-6966_307-6965insCTTTTTTTTTTTTTTTTTTT
ENST00000612355.1:c.222+11540_222+11541insCTTTTTTTTTTTTTTTTTTT	ENSP00000479729.1:n.222+11540_222+11541insCTTTTTTTTTTTTTTTTTT...
ENST00000613098.4:c.-148+7517_-148+7518insCTTTTTTTTTTTTTTTTTTT	ENSP00000481498.1:n.-148+7517_-148+7518insCTTTTTTTTTTTTTTTTTT...
ENST00000617484.4:c.222+11540_222+11541insCTTTTTTTTTTTTTTTTTTT	ENSP00000477921.1:n.222+11540_222+11541insCTTTTTTTTTTTTTTTTTT...
NM_013261.3:c.234+11540_234+11541insCTTTTTTTTTTTTTTTTTTT	NP_037393.1:n.234+11540_234+11541insCTTTTTTTTTTTTTTTTTTT
XM_005248130.2:c.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT	XP_005248187.1:n.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT
XM_005248131.3:c.246+11540_246+11541insCTTTTTTTTTTTTTTTTTTT	XP_005248188.1:n.246+11540_246+11541insCTTTTTTTTTTTTTTTTTTT
XM_005248132.1:c.225+11540_225+11541insCTTTTTTTTTTTTTTTTTTT	XP_005248189.1:n.225+11540_225+11541insCTTTTTTTTTTTTTTTTTTT
XM_005248134.3:c.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT	XP_005248191.1:n.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT
XM_011513764.1:c.234+11540_234+11541insCTTTTTTTTTTTTTTTTTTT	XP_011512066.1:n.234+11540_234+11541insCTTTTTTTTTTTTTTTTTTT
XM_011513765.1:c.198+11540_198+11541insCTTTTTTTTTTTTTTTTTTT	XP_011512067.1:n.198+11540_198+11541insCTTTTTTTTTTTTTTTTTTT
XM_011513766.1:c.129+4502_129+4503insCTTTTTTTTTTTTTTTTTTT	XP_011512068.1:n.129+4502_129+4503insCTTTTTTTTTTTTTTTTTTT
XM_011513767.1:c.129+4502_129+4503insCTTTTTTTTTTTTTTTTTTT	XP_011512069.1:n.129+4502_129+4503insCTTTTTTTTTTTTTTTTTTT
XM_011513768.1:c.129+4502_129+4503insCTTTTTTTTTTTTTTTTTTT	XP_011512070.1:n.129+4502_129+4503insCTTTTTTTTTTTTTTTTTTT
XM_011513769.1:c.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT	XP_011512071.1:n.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT
XM_011513770.1:c.-148+7517_-148+7518insCTTTTTTTTTTTTTTTTTTT	XP_011512072.1:n.-148+7517_-148+7518insCTTTTTTTTTTTTTTTTTTT
XM_011513771.1:c.-148+8746_-148+8747insCTTTTTTTTTTTTTTTTTTT	XP_011512073.1:n.-148+8746_-148+8747insCTTTTTTTTTTTTTTTTTTT
NM_001330751.1:c.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT	NP_001317680.1:n.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT
NM_001330752.1:c.198+11540_198+11541insCTTTTTTTTTTTTTTTTTTT	NP_001317681.1:n.198+11540_198+11541insCTTTTTTTTTTTTTTTTTTT
NM_001330753.1:c.-148+7517_-148+7518insCTTTTTTTTTTTTTTTTTTT	NP_001317682.1:n.-148+7517_-148+7518insCTTTTTTTTTTTTTTTTTTT
NM_001354825.1:c.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT	NP_001341754.1:n.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT
NM_001354826.1:c.-148+11099_-148+11100insCTTTTTTTTTTTTTTTTTTT	NP_001341755.1:n.-148+11099_-148+11100insCTTTTTTTTTTTTTTTTTTT...
NM_001354827.1:c.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT	NP_001341756.1:n.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT
NM_013261.4:c.234+11540_234+11541insCTTTTTTTTTTTTTTTTTTT	NP_037393.1:n.234+11540_234+11541insCTTTTTTTTTTTTTTTTTTT
NR_148981.1:n.700+11540_700+11541insCTTTTTTTTTTTTTTTTTTT
NR_148982.1:n.803+11540_803+11541insCTTTTTTTTTTTTTTTTTTT
NR_148983.1:n.956+4502_956+4503insCTTTTTTTTTTTTTTTTTTT
NR_148984.1:n.354+11540_354+11541insCTTTTTTTTTTTTTTTTTTT
NR_148985.1:n.868+11540_868+11541insCTTTTTTTTTTTTTTTTTTT
NR_148986.1:n.700+11540_700+11541insCTTTTTTTTTTTTTTTTTTT
NR_148987.1:n.700+11540_700+11541insCTTTTTTTTTTTTTTTTTTT
XM_005248131.5:c.246+11540_246+11541insCTTTTTTTTTTTTTTTTTTT	XP_005248188.1:n.246+11540_246+11541insCTTTTTTTTTTTTTTTTTTT
XM_005248134.4:c.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT	XP_005248191.1:n.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT
XM_011513769.2:c.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT	XP_011512071.1:n.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT
XM_024453878.1:c.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT	XP_024309646.1:n.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT
NM_013261.5:c.234+11540_234+11541insCTTTTTTTTTTTTTTTTTTT MANE Select	NP_037393.1:n.234+11540_234+11541insCTTTTTTTTTTTTTTTTTTT
NM_001330751.2:c.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT	NP_001317680.1:n.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT
NM_001330752.2:c.198+11540_198+11541insCTTTTTTTTTTTTTTTTTTT	NP_001317681.1:n.198+11540_198+11541insCTTTTTTTTTTTTTTTTTTT
NM_001354825.2:c.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT	NP_001341754.1:n.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT
NM_001354826.2:c.-148+11099_-148+11100insCTTTTTTTTTTTTTTTTTTT	NP_001341755.1:n.-148+11099_-148+11100insCTTTTTTTTTTTTTTTTTTT...
NM_001354827.2:c.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT	NP_001341756.1:n.249+11540_249+11541insCTTTTTTTTTTTTTTTTTTT
NR_148981.2:n.776+11540_776+11541insCTTTTTTTTTTTTTTTTTTT
NR_148982.2:n.879+11540_879+11541insCTTTTTTTTTTTTTTTTTTT
NR_148983.2:n.1032+4502_1032+4503insCTTTTTTTTTTTTTTTTTTT
NR_148984.2:n.324+11540_324+11541insCTTTTTTTTTTTTTTTTTTT
NR_148985.2:n.944+11540_944+11541insCTTTTTTTTTTTTTTTTTTT
NR_148986.2:n.776+11540_776+11541insCTTTTTTTTTTTTTTTTTTT
NR_148987.2:n.776+11540_776+11541insCTTTTTTTTTTTTTTTTTTT
NM_001330753.2:c.-148+7517_-148+7518insCTTTTTTTTTTTTTTTTTTT	NP_001317682.1:n.-148+7517_-148+7518insCTTTTTTTTTTTTTTTTTTT