Canonical Allele Identifier: CA1060222165

Gene: PPARGC1A

Linked Data

• gnomAD v3: 4-23873235-A-AAAATT
• gnomAD v4: 4-23873235-A-AAAATT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23873235_23873236insAAATT , CM000666.2:g.23873235_23873236insAAATT	GRCh38
NC_000004.11:g.23874858_23874859insAAATT , CM000666.1:g.23874858_23874859insAAATT	GRCh37
NC_000004.10:g.23483956_23483957insAAATT	NCBI36
NG_028250.1:g.21842_21843insAATTT
NG_028250.2:g.604740_604741insAATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.234+11516_234+11517insAATTT MANE Select	ENSP00000264867.2:n.234+11516_234+11517insAATTT
ENST00000264867.6:c.234+11516_234+11517insAATTT	ENSP00000264867.2:n.234+11516_234+11517insAATTT
ENST00000506055.5:c.234+11516_234+11517insAATTT	ENSP00000423075.1:n.234+11516_234+11517insAATTT
ENST00000507342.5:n.314+11516_314+11517insAATTT
ENST00000508380.1:n.154+8722_154+8723insAATTT
ENST00000509642.5:n.327+4478_327+4479insAATTT
ENST00000509702.5:n.191+8685_191+8686insAATTT
ENST00000512169.1:n.327+4478_327+4479insAATTT
ENST00000513205.5:c.234+11516_234+11517insAATTT	ENSP00000421632.1:n.234+11516_234+11517insAATTT
ENST00000515534.5:n.307-6990_307-6989insAATTT
ENST00000612355.1:c.222+11516_222+11517insAATTT	ENSP00000479729.1:n.222+11516_222+11517insAATTT
ENST00000613098.4:c.-148+7493_-148+7494insAATTT	ENSP00000481498.1:n.-148+7493_-148+7494insAATTT
ENST00000617484.4:c.222+11516_222+11517insAATTT	ENSP00000477921.1:n.222+11516_222+11517insAATTT
NM_013261.3:c.234+11516_234+11517insAATTT	NP_037393.1:n.234+11516_234+11517insAATTT
XM_005248130.2:c.249+11516_249+11517insAATTT	XP_005248187.1:n.249+11516_249+11517insAATTT
XM_005248131.3:c.246+11516_246+11517insAATTT	XP_005248188.1:n.246+11516_246+11517insAATTT
XM_005248132.1:c.225+11516_225+11517insAATTT	XP_005248189.1:n.225+11516_225+11517insAATTT
XM_005248134.3:c.249+11516_249+11517insAATTT	XP_005248191.1:n.249+11516_249+11517insAATTT
XM_011513764.1:c.234+11516_234+11517insAATTT	XP_011512066.1:n.234+11516_234+11517insAATTT
XM_011513765.1:c.198+11516_198+11517insAATTT	XP_011512067.1:n.198+11516_198+11517insAATTT
XM_011513766.1:c.129+4478_129+4479insAATTT	XP_011512068.1:n.129+4478_129+4479insAATTT
XM_011513767.1:c.129+4478_129+4479insAATTT	XP_011512069.1:n.129+4478_129+4479insAATTT
XM_011513768.1:c.129+4478_129+4479insAATTT	XP_011512070.1:n.129+4478_129+4479insAATTT
XM_011513769.1:c.249+11516_249+11517insAATTT	XP_011512071.1:n.249+11516_249+11517insAATTT
XM_011513770.1:c.-148+7493_-148+7494insAATTT	XP_011512072.1:n.-148+7493_-148+7494insAATTT
XM_011513771.1:c.-148+8722_-148+8723insAATTT	XP_011512073.1:n.-148+8722_-148+8723insAATTT
NM_001330751.1:c.249+11516_249+11517insAATTT	NP_001317680.1:n.249+11516_249+11517insAATTT
NM_001330752.1:c.198+11516_198+11517insAATTT	NP_001317681.1:n.198+11516_198+11517insAATTT
NM_001330753.1:c.-148+7493_-148+7494insAATTT	NP_001317682.1:n.-148+7493_-148+7494insAATTT
NM_001354825.1:c.249+11516_249+11517insAATTT	NP_001341754.1:n.249+11516_249+11517insAATTT
NM_001354826.1:c.-148+11075_-148+11076insAATTT	NP_001341755.1:n.-148+11075_-148+11076insAATTT
NM_001354827.1:c.249+11516_249+11517insAATTT	NP_001341756.1:n.249+11516_249+11517insAATTT
NM_013261.4:c.234+11516_234+11517insAATTT	NP_037393.1:n.234+11516_234+11517insAATTT
NR_148981.1:n.700+11516_700+11517insAATTT
NR_148982.1:n.803+11516_803+11517insAATTT
NR_148983.1:n.956+4478_956+4479insAATTT
NR_148984.1:n.354+11516_354+11517insAATTT
NR_148985.1:n.868+11516_868+11517insAATTT
NR_148986.1:n.700+11516_700+11517insAATTT
NR_148987.1:n.700+11516_700+11517insAATTT
XM_005248131.5:c.246+11516_246+11517insAATTT	XP_005248188.1:n.246+11516_246+11517insAATTT
XM_005248134.4:c.249+11516_249+11517insAATTT	XP_005248191.1:n.249+11516_249+11517insAATTT
XM_011513769.2:c.249+11516_249+11517insAATTT	XP_011512071.1:n.249+11516_249+11517insAATTT
XM_024453878.1:c.249+11516_249+11517insAATTT	XP_024309646.1:n.249+11516_249+11517insAATTT
NM_013261.5:c.234+11516_234+11517insAATTT MANE Select	NP_037393.1:n.234+11516_234+11517insAATTT
NM_001330751.2:c.249+11516_249+11517insAATTT	NP_001317680.1:n.249+11516_249+11517insAATTT
NM_001330752.2:c.198+11516_198+11517insAATTT	NP_001317681.1:n.198+11516_198+11517insAATTT
NM_001354825.2:c.249+11516_249+11517insAATTT	NP_001341754.1:n.249+11516_249+11517insAATTT
NM_001354826.2:c.-148+11075_-148+11076insAATTT	NP_001341755.1:n.-148+11075_-148+11076insAATTT
NM_001354827.2:c.249+11516_249+11517insAATTT	NP_001341756.1:n.249+11516_249+11517insAATTT
NR_148981.2:n.776+11516_776+11517insAATTT
NR_148982.2:n.879+11516_879+11517insAATTT
NR_148983.2:n.1032+4478_1032+4479insAATTT
NR_148984.2:n.324+11516_324+11517insAATTT
NR_148985.2:n.944+11516_944+11517insAATTT
NR_148986.2:n.776+11516_776+11517insAATTT
NR_148987.2:n.776+11516_776+11517insAATTT
NM_001330753.2:c.-148+7493_-148+7494insAATTT	NP_001317682.1:n.-148+7493_-148+7494insAATTT