Canonical Allele Identifier: CA1060222122

Gene: PPARGC1A

Linked Data

• gnomAD v3: 4-23873230-A-AAAAAG
• gnomAD v4: 4-23873230-A-AAAAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23873234_23873235insGAAAA , CM000666.2:g.23873234_23873235insGAAAA	GRCh38
NC_000004.11:g.23874857_23874858insGAAAA , CM000666.1:g.23874857_23874858insGAAAA	GRCh37
NC_000004.10:g.23483955_23483956insGAAAA	NCBI36
NG_028250.1:g.21847_21848insCTTTT
NG_028250.2:g.604745_604746insCTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.234+11521_234+11522insCTTTT MANE Select	ENSP00000264867.2:n.234+11521_234+11522insCTTTT
ENST00000264867.6:c.234+11521_234+11522insCTTTT	ENSP00000264867.2:n.234+11521_234+11522insCTTTT
ENST00000506055.5:c.234+11521_234+11522insCTTTT	ENSP00000423075.1:n.234+11521_234+11522insCTTTT
ENST00000507342.5:n.314+11521_314+11522insCTTTT
ENST00000508380.1:n.154+8727_154+8728insCTTTT
ENST00000509642.5:n.327+4483_327+4484insCTTTT
ENST00000509702.5:n.191+8690_191+8691insCTTTT
ENST00000512169.1:n.327+4483_327+4484insCTTTT
ENST00000513205.5:c.234+11521_234+11522insCTTTT	ENSP00000421632.1:n.234+11521_234+11522insCTTTT
ENST00000515534.5:n.307-6985_307-6984insCTTTT
ENST00000612355.1:c.222+11521_222+11522insCTTTT	ENSP00000479729.1:n.222+11521_222+11522insCTTTT
ENST00000613098.4:c.-148+7498_-148+7499insCTTTT	ENSP00000481498.1:n.-148+7498_-148+7499insCTTTT
ENST00000617484.4:c.222+11521_222+11522insCTTTT	ENSP00000477921.1:n.222+11521_222+11522insCTTTT
NM_013261.3:c.234+11521_234+11522insCTTTT	NP_037393.1:n.234+11521_234+11522insCTTTT
XM_005248130.2:c.249+11521_249+11522insCTTTT	XP_005248187.1:n.249+11521_249+11522insCTTTT
XM_005248131.3:c.246+11521_246+11522insCTTTT	XP_005248188.1:n.246+11521_246+11522insCTTTT
XM_005248132.1:c.225+11521_225+11522insCTTTT	XP_005248189.1:n.225+11521_225+11522insCTTTT
XM_005248134.3:c.249+11521_249+11522insCTTTT	XP_005248191.1:n.249+11521_249+11522insCTTTT
XM_011513764.1:c.234+11521_234+11522insCTTTT	XP_011512066.1:n.234+11521_234+11522insCTTTT
XM_011513765.1:c.198+11521_198+11522insCTTTT	XP_011512067.1:n.198+11521_198+11522insCTTTT
XM_011513766.1:c.129+4483_129+4484insCTTTT	XP_011512068.1:n.129+4483_129+4484insCTTTT
XM_011513767.1:c.129+4483_129+4484insCTTTT	XP_011512069.1:n.129+4483_129+4484insCTTTT
XM_011513768.1:c.129+4483_129+4484insCTTTT	XP_011512070.1:n.129+4483_129+4484insCTTTT
XM_011513769.1:c.249+11521_249+11522insCTTTT	XP_011512071.1:n.249+11521_249+11522insCTTTT
XM_011513770.1:c.-148+7498_-148+7499insCTTTT	XP_011512072.1:n.-148+7498_-148+7499insCTTTT
XM_011513771.1:c.-148+8727_-148+8728insCTTTT	XP_011512073.1:n.-148+8727_-148+8728insCTTTT
NM_001330751.1:c.249+11521_249+11522insCTTTT	NP_001317680.1:n.249+11521_249+11522insCTTTT
NM_001330752.1:c.198+11521_198+11522insCTTTT	NP_001317681.1:n.198+11521_198+11522insCTTTT
NM_001330753.1:c.-148+7498_-148+7499insCTTTT	NP_001317682.1:n.-148+7498_-148+7499insCTTTT
NM_001354825.1:c.249+11521_249+11522insCTTTT	NP_001341754.1:n.249+11521_249+11522insCTTTT
NM_001354826.1:c.-148+11080_-148+11081insCTTTT	NP_001341755.1:n.-148+11080_-148+11081insCTTTT
NM_001354827.1:c.249+11521_249+11522insCTTTT	NP_001341756.1:n.249+11521_249+11522insCTTTT
NM_013261.4:c.234+11521_234+11522insCTTTT	NP_037393.1:n.234+11521_234+11522insCTTTT
NR_148981.1:n.700+11521_700+11522insCTTTT
NR_148982.1:n.803+11521_803+11522insCTTTT
NR_148983.1:n.956+4483_956+4484insCTTTT
NR_148984.1:n.354+11521_354+11522insCTTTT
NR_148985.1:n.868+11521_868+11522insCTTTT
NR_148986.1:n.700+11521_700+11522insCTTTT
NR_148987.1:n.700+11521_700+11522insCTTTT
XM_005248131.5:c.246+11521_246+11522insCTTTT	XP_005248188.1:n.246+11521_246+11522insCTTTT
XM_005248134.4:c.249+11521_249+11522insCTTTT	XP_005248191.1:n.249+11521_249+11522insCTTTT
XM_011513769.2:c.249+11521_249+11522insCTTTT	XP_011512071.1:n.249+11521_249+11522insCTTTT
XM_024453878.1:c.249+11521_249+11522insCTTTT	XP_024309646.1:n.249+11521_249+11522insCTTTT
NM_013261.5:c.234+11521_234+11522insCTTTT MANE Select	NP_037393.1:n.234+11521_234+11522insCTTTT
NM_001330751.2:c.249+11521_249+11522insCTTTT	NP_001317680.1:n.249+11521_249+11522insCTTTT
NM_001330752.2:c.198+11521_198+11522insCTTTT	NP_001317681.1:n.198+11521_198+11522insCTTTT
NM_001354825.2:c.249+11521_249+11522insCTTTT	NP_001341754.1:n.249+11521_249+11522insCTTTT
NM_001354826.2:c.-148+11080_-148+11081insCTTTT	NP_001341755.1:n.-148+11080_-148+11081insCTTTT
NM_001354827.2:c.249+11521_249+11522insCTTTT	NP_001341756.1:n.249+11521_249+11522insCTTTT
NR_148981.2:n.776+11521_776+11522insCTTTT
NR_148982.2:n.879+11521_879+11522insCTTTT
NR_148983.2:n.1032+4483_1032+4484insCTTTT
NR_148984.2:n.324+11521_324+11522insCTTTT
NR_148985.2:n.944+11521_944+11522insCTTTT
NR_148986.2:n.776+11521_776+11522insCTTTT
NR_148987.2:n.776+11521_776+11522insCTTTT
NM_001330753.2:c.-148+7498_-148+7499insCTTTT	NP_001317682.1:n.-148+7498_-148+7499insCTTTT