Canonical Allele Identifier: CA1444640272

Gene: PPARGC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23873353_23873354delinsAG , CM000666.2:g.23873353_23873354delinsAG	GRCh38
NC_000004.11:g.23874976_23874977delinsAG , CM000666.1:g.23874976_23874977delinsAG	GRCh37
NC_000004.10:g.23484074_23484075delinsAG	NCBI36
NG_028250.1:g.21724_21725delinsCT
NG_028250.2:g.604622_604623delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000264867.7:c.234+11398_234+11399delinsCT MANE Select	ENSP00000264867.2:n.234+11398_234+11399delinsCT
ENST00000264867.6:c.234+11398_234+11399delinsCT	ENSP00000264867.2:n.234+11398_234+11399delinsCT
ENST00000506055.5:c.234+11398_234+11399delinsCT	ENSP00000423075.1:n.234+11398_234+11399delinsCT
ENST00000507342.5:n.314+11398_314+11399delinsCT
ENST00000508380.1:n.154+8604_154+8605delinsCT
ENST00000509642.5:n.327+4360_327+4361delinsCT
ENST00000509702.5:n.191+8567_191+8568delinsCT
ENST00000512169.1:n.327+4360_327+4361delinsCT
ENST00000513205.5:c.234+11398_234+11399delinsCT	ENSP00000421632.1:n.234+11398_234+11399delinsCT
ENST00000515534.5:n.307-7108_307-7107delinsCT
ENST00000612355.1:c.222+11398_222+11399delinsCT	ENSP00000479729.1:n.222+11398_222+11399delinsCT
ENST00000613098.4:c.-148+7375_-148+7376delinsCT	ENSP00000481498.1:n.-148+7375_-148+7376delinsCT
ENST00000617484.4:c.222+11398_222+11399delinsCT	ENSP00000477921.1:n.222+11398_222+11399delinsCT
NM_013261.3:c.234+11398_234+11399delinsCT	NP_037393.1:n.234+11398_234+11399delinsCT
XM_005248130.2:c.249+11398_249+11399delinsCT	XP_005248187.1:n.249+11398_249+11399delinsCT
XM_005248131.3:c.246+11398_246+11399delinsCT	XP_005248188.1:n.246+11398_246+11399delinsCT
XM_005248132.1:c.225+11398_225+11399delinsCT	XP_005248189.1:n.225+11398_225+11399delinsCT
XM_005248134.3:c.249+11398_249+11399delinsCT	XP_005248191.1:n.249+11398_249+11399delinsCT
XM_011513764.1:c.234+11398_234+11399delinsCT	XP_011512066.1:n.234+11398_234+11399delinsCT
XM_011513765.1:c.198+11398_198+11399delinsCT	XP_011512067.1:n.198+11398_198+11399delinsCT
XM_011513766.1:c.129+4360_129+4361delinsCT	XP_011512068.1:n.129+4360_129+4361delinsCT
XM_011513767.1:c.129+4360_129+4361delinsCT	XP_011512069.1:n.129+4360_129+4361delinsCT
XM_011513768.1:c.129+4360_129+4361delinsCT	XP_011512070.1:n.129+4360_129+4361delinsCT
XM_011513769.1:c.249+11398_249+11399delinsCT	XP_011512071.1:n.249+11398_249+11399delinsCT
XM_011513770.1:c.-148+7375_-148+7376delinsCT	XP_011512072.1:n.-148+7375_-148+7376delinsCT
XM_011513771.1:c.-148+8604_-148+8605delinsCT	XP_011512073.1:n.-148+8604_-148+8605delinsCT
NM_001330751.1:c.249+11398_249+11399delinsCT	NP_001317680.1:n.249+11398_249+11399delinsCT
NM_001330752.1:c.198+11398_198+11399delinsCT	NP_001317681.1:n.198+11398_198+11399delinsCT
NM_001330753.1:c.-148+7375_-148+7376delinsCT	NP_001317682.1:n.-148+7375_-148+7376delinsCT
NM_001354825.1:c.249+11398_249+11399delinsCT	NP_001341754.1:n.249+11398_249+11399delinsCT
NM_001354826.1:c.-148+10957_-148+10958delinsCT	NP_001341755.1:n.-148+10957_-148+10958delinsCT
NM_001354827.1:c.249+11398_249+11399delinsCT	NP_001341756.1:n.249+11398_249+11399delinsCT
NM_013261.4:c.234+11398_234+11399delinsCT	NP_037393.1:n.234+11398_234+11399delinsCT
NR_148981.1:n.700+11398_700+11399delinsCT
NR_148982.1:n.803+11398_803+11399delinsCT
NR_148983.1:n.956+4360_956+4361delinsCT
NR_148984.1:n.354+11398_354+11399delinsCT
NR_148985.1:n.868+11398_868+11399delinsCT
NR_148986.1:n.700+11398_700+11399delinsCT
NR_148987.1:n.700+11398_700+11399delinsCT
XM_005248131.5:c.246+11398_246+11399delinsCT	XP_005248188.1:n.246+11398_246+11399delinsCT
XM_005248134.4:c.249+11398_249+11399delinsCT	XP_005248191.1:n.249+11398_249+11399delinsCT
XM_011513769.2:c.249+11398_249+11399delinsCT	XP_011512071.1:n.249+11398_249+11399delinsCT
XM_024453878.1:c.249+11398_249+11399delinsCT	XP_024309646.1:n.249+11398_249+11399delinsCT
NM_013261.5:c.234+11398_234+11399delinsCT MANE Select	NP_037393.1:n.234+11398_234+11399delinsCT
NM_001330751.2:c.249+11398_249+11399delinsCT	NP_001317680.1:n.249+11398_249+11399delinsCT
NM_001330752.2:c.198+11398_198+11399delinsCT	NP_001317681.1:n.198+11398_198+11399delinsCT
NM_001354825.2:c.249+11398_249+11399delinsCT	NP_001341754.1:n.249+11398_249+11399delinsCT
NM_001354826.2:c.-148+10957_-148+10958delinsCT	NP_001341755.1:n.-148+10957_-148+10958delinsCT
NM_001354827.2:c.249+11398_249+11399delinsCT	NP_001341756.1:n.249+11398_249+11399delinsCT
NR_148981.2:n.776+11398_776+11399delinsCT
NR_148982.2:n.879+11398_879+11399delinsCT
NR_148983.2:n.1032+4360_1032+4361delinsCT
NR_148984.2:n.324+11398_324+11399delinsCT
NR_148985.2:n.944+11398_944+11399delinsCT
NR_148986.2:n.776+11398_776+11399delinsCT
NR_148987.2:n.776+11398_776+11399delinsCT
NM_001330753.2:c.-148+7375_-148+7376delinsCT	NP_001317682.1:n.-148+7375_-148+7376delinsCT