Canonical Allele Identifier: CA1444640395
Gene: PPARGC1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.23873520_23873522delinsGTC , CM000666.2:g.23873520_23873522delinsGTC GRCh38
NC_000004.11:g.23875143_23875145delinsGTC , CM000666.1:g.23875143_23875145delinsGTC GRCh37
NC_000004.10:g.23484241_23484243delinsGTC NCBI36
NG_028250.1:g.21556_21558delinsGAC
NG_028250.2:g.604454_604456delinsGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000264867.7:c.234+11230_234+11232delinsGAC MANE Select ENSP00000264867.2:n.234+11230_234+11232delinsGAC
ENST00000264867.6:c.234+11230_234+11232delinsGAC ENSP00000264867.2:n.234+11230_234+11232delinsGAC
ENST00000506055.5:c.234+11230_234+11232delinsGAC ENSP00000423075.1:n.234+11230_234+11232delinsGAC
ENST00000507342.5:n.314+11230_314+11232delinsGAC
ENST00000508380.1:n.154+8436_154+8438delinsGAC
ENST00000509642.5:n.327+4192_327+4194delinsGAC
ENST00000509702.5:n.191+8399_191+8401delinsGAC
ENST00000512169.1:n.327+4192_327+4194delinsGAC
ENST00000513205.5:c.234+11230_234+11232delinsGAC ENSP00000421632.1:n.234+11230_234+11232delinsGAC
ENST00000515534.5:n.307-7276_307-7274delinsGAC
ENST00000612355.1:c.222+11230_222+11232delinsGAC ENSP00000479729.1:n.222+11230_222+11232delinsGAC
ENST00000613098.4:c.-148+7207_-148+7209delinsGAC ENSP00000481498.1:n.-148+7207_-148+7209delinsGAC
ENST00000617484.4:c.222+11230_222+11232delinsGAC ENSP00000477921.1:n.222+11230_222+11232delinsGAC
NM_013261.3:c.234+11230_234+11232delinsGAC NP_037393.1:n.234+11230_234+11232delinsGAC
XM_005248130.2:c.249+11230_249+11232delinsGAC XP_005248187.1:n.249+11230_249+11232delinsGAC
XM_005248131.3:c.246+11230_246+11232delinsGAC XP_005248188.1:n.246+11230_246+11232delinsGAC
XM_005248132.1:c.225+11230_225+11232delinsGAC XP_005248189.1:n.225+11230_225+11232delinsGAC
XM_005248134.3:c.249+11230_249+11232delinsGAC XP_005248191.1:n.249+11230_249+11232delinsGAC
XM_011513764.1:c.234+11230_234+11232delinsGAC XP_011512066.1:n.234+11230_234+11232delinsGAC
XM_011513765.1:c.198+11230_198+11232delinsGAC XP_011512067.1:n.198+11230_198+11232delinsGAC
XM_011513766.1:c.129+4192_129+4194delinsGAC XP_011512068.1:n.129+4192_129+4194delinsGAC
XM_011513767.1:c.129+4192_129+4194delinsGAC XP_011512069.1:n.129+4192_129+4194delinsGAC
XM_011513768.1:c.129+4192_129+4194delinsGAC XP_011512070.1:n.129+4192_129+4194delinsGAC
XM_011513769.1:c.249+11230_249+11232delinsGAC XP_011512071.1:n.249+11230_249+11232delinsGAC
XM_011513770.1:c.-148+7207_-148+7209delinsGAC XP_011512072.1:n.-148+7207_-148+7209delinsGAC
XM_011513771.1:c.-148+8436_-148+8438delinsGAC XP_011512073.1:n.-148+8436_-148+8438delinsGAC
NM_001330751.1:c.249+11230_249+11232delinsGAC NP_001317680.1:n.249+11230_249+11232delinsGAC
NM_001330752.1:c.198+11230_198+11232delinsGAC NP_001317681.1:n.198+11230_198+11232delinsGAC
NM_001330753.1:c.-148+7207_-148+7209delinsGAC NP_001317682.1:n.-148+7207_-148+7209delinsGAC
NM_001354825.1:c.249+11230_249+11232delinsGAC NP_001341754.1:n.249+11230_249+11232delinsGAC
NM_001354826.1:c.-148+10789_-148+10791delinsGAC NP_001341755.1:n.-148+10789_-148+10791delinsGAC
NM_001354827.1:c.249+11230_249+11232delinsGAC NP_001341756.1:n.249+11230_249+11232delinsGAC
NM_013261.4:c.234+11230_234+11232delinsGAC NP_037393.1:n.234+11230_234+11232delinsGAC
NR_148981.1:n.700+11230_700+11232delinsGAC
NR_148982.1:n.803+11230_803+11232delinsGAC
NR_148983.1:n.956+4192_956+4194delinsGAC
NR_148984.1:n.354+11230_354+11232delinsGAC
NR_148985.1:n.868+11230_868+11232delinsGAC
NR_148986.1:n.700+11230_700+11232delinsGAC
NR_148987.1:n.700+11230_700+11232delinsGAC
XM_005248131.5:c.246+11230_246+11232delinsGAC XP_005248188.1:n.246+11230_246+11232delinsGAC
XM_005248134.4:c.249+11230_249+11232delinsGAC XP_005248191.1:n.249+11230_249+11232delinsGAC
XM_011513769.2:c.249+11230_249+11232delinsGAC XP_011512071.1:n.249+11230_249+11232delinsGAC
XM_024453878.1:c.249+11230_249+11232delinsGAC XP_024309646.1:n.249+11230_249+11232delinsGAC
NM_013261.5:c.234+11230_234+11232delinsGAC MANE Select NP_037393.1:n.234+11230_234+11232delinsGAC
NM_001330751.2:c.249+11230_249+11232delinsGAC NP_001317680.1:n.249+11230_249+11232delinsGAC
NM_001330752.2:c.198+11230_198+11232delinsGAC NP_001317681.1:n.198+11230_198+11232delinsGAC
NM_001354825.2:c.249+11230_249+11232delinsGAC NP_001341754.1:n.249+11230_249+11232delinsGAC
NM_001354826.2:c.-148+10789_-148+10791delinsGAC NP_001341755.1:n.-148+10789_-148+10791delinsGAC
NM_001354827.2:c.249+11230_249+11232delinsGAC NP_001341756.1:n.249+11230_249+11232delinsGAC
NR_148981.2:n.776+11230_776+11232delinsGAC
NR_148982.2:n.879+11230_879+11232delinsGAC
NR_148983.2:n.1032+4192_1032+4194delinsGAC
NR_148984.2:n.324+11230_324+11232delinsGAC
NR_148985.2:n.944+11230_944+11232delinsGAC
NR_148986.2:n.776+11230_776+11232delinsGAC
NR_148987.2:n.776+11230_776+11232delinsGAC
NM_001330753.2:c.-148+7207_-148+7209delinsGAC NP_001317682.1:n.-148+7207_-148+7209delinsGAC