Canonical Allele Identifier: CA1060222053
Gene: PPARGC1A HGNC NCBI

Linked Data

gnomAD v3: 4-23873221-A-AAAAAAAAAAAAAAG
gnomAD v4: 4-23873221-A-AAAAAAAAAAAAAAG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.23873223_23873224insAAAAAAAAAAAGAA , CM000666.2:g.23873223_23873224insAAAAAAAAAAAGAA GRCh38
NC_000004.11:g.23874846_23874847insAAAAAAAAAAAGAA , CM000666.1:g.23874846_23874847insAAAAAAAAAAAGAA GRCh37
NC_000004.10:g.23483944_23483945insAAAAAAAAAAAGAA NCBI36
NG_028250.1:g.21856_21857insCTTTTTTTTTTTTT
NG_028250.2:g.604754_604755insCTTTTTTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264867.7:c.234+11530_234+11531insCTTTTTTTTTTTTT MANE Select ENSP00000264867.2:n.234+11530_234+11531insCTTTTTTTTTTTTT
ENST00000264867.6:c.234+11530_234+11531insCTTTTTTTTTTTTT ENSP00000264867.2:n.234+11530_234+11531insCTTTTTTTTTTTTT
ENST00000506055.5:c.234+11530_234+11531insCTTTTTTTTTTTTT ENSP00000423075.1:n.234+11530_234+11531insCTTTTTTTTTTTTT
ENST00000507342.5:n.314+11530_314+11531insCTTTTTTTTTTTTT
ENST00000508380.1:n.154+8736_154+8737insCTTTTTTTTTTTTT
ENST00000509642.5:n.327+4492_327+4493insCTTTTTTTTTTTTT
ENST00000509702.5:n.191+8699_191+8700insCTTTTTTTTTTTTT
ENST00000512169.1:n.327+4492_327+4493insCTTTTTTTTTTTTT
ENST00000513205.5:c.234+11530_234+11531insCTTTTTTTTTTTTT ENSP00000421632.1:n.234+11530_234+11531insCTTTTTTTTTTTTT
ENST00000515534.5:n.307-6976_307-6975insCTTTTTTTTTTTTT
ENST00000612355.1:c.222+11530_222+11531insCTTTTTTTTTTTTT ENSP00000479729.1:n.222+11530_222+11531insCTTTTTTTTTTTTT
ENST00000613098.4:c.-148+7507_-148+7508insCTTTTTTTTTTTTT ENSP00000481498.1:n.-148+7507_-148+7508insCTTTTTTTTTTTTT
ENST00000617484.4:c.222+11530_222+11531insCTTTTTTTTTTTTT ENSP00000477921.1:n.222+11530_222+11531insCTTTTTTTTTTTTT
NM_013261.3:c.234+11530_234+11531insCTTTTTTTTTTTTT NP_037393.1:n.234+11530_234+11531insCTTTTTTTTTTTTT
XM_005248130.2:c.249+11530_249+11531insCTTTTTTTTTTTTT XP_005248187.1:n.249+11530_249+11531insCTTTTTTTTTTTTT
XM_005248131.3:c.246+11530_246+11531insCTTTTTTTTTTTTT XP_005248188.1:n.246+11530_246+11531insCTTTTTTTTTTTTT
XM_005248132.1:c.225+11530_225+11531insCTTTTTTTTTTTTT XP_005248189.1:n.225+11530_225+11531insCTTTTTTTTTTTTT
XM_005248134.3:c.249+11530_249+11531insCTTTTTTTTTTTTT XP_005248191.1:n.249+11530_249+11531insCTTTTTTTTTTTTT
XM_011513764.1:c.234+11530_234+11531insCTTTTTTTTTTTTT XP_011512066.1:n.234+11530_234+11531insCTTTTTTTTTTTTT
XM_011513765.1:c.198+11530_198+11531insCTTTTTTTTTTTTT XP_011512067.1:n.198+11530_198+11531insCTTTTTTTTTTTTT
XM_011513766.1:c.129+4492_129+4493insCTTTTTTTTTTTTT XP_011512068.1:n.129+4492_129+4493insCTTTTTTTTTTTTT
XM_011513767.1:c.129+4492_129+4493insCTTTTTTTTTTTTT XP_011512069.1:n.129+4492_129+4493insCTTTTTTTTTTTTT
XM_011513768.1:c.129+4492_129+4493insCTTTTTTTTTTTTT XP_011512070.1:n.129+4492_129+4493insCTTTTTTTTTTTTT
XM_011513769.1:c.249+11530_249+11531insCTTTTTTTTTTTTT XP_011512071.1:n.249+11530_249+11531insCTTTTTTTTTTTTT
XM_011513770.1:c.-148+7507_-148+7508insCTTTTTTTTTTTTT XP_011512072.1:n.-148+7507_-148+7508insCTTTTTTTTTTTTT
XM_011513771.1:c.-148+8736_-148+8737insCTTTTTTTTTTTTT XP_011512073.1:n.-148+8736_-148+8737insCTTTTTTTTTTTTT
NM_001330751.1:c.249+11530_249+11531insCTTTTTTTTTTTTT NP_001317680.1:n.249+11530_249+11531insCTTTTTTTTTTTTT
NM_001330752.1:c.198+11530_198+11531insCTTTTTTTTTTTTT NP_001317681.1:n.198+11530_198+11531insCTTTTTTTTTTTTT
NM_001330753.1:c.-148+7507_-148+7508insCTTTTTTTTTTTTT NP_001317682.1:n.-148+7507_-148+7508insCTTTTTTTTTTTTT
NM_001354825.1:c.249+11530_249+11531insCTTTTTTTTTTTTT NP_001341754.1:n.249+11530_249+11531insCTTTTTTTTTTTTT
NM_001354826.1:c.-148+11089_-148+11090insCTTTTTTTTTTTTT NP_001341755.1:n.-148+11089_-148+11090insCTTTTTTTTTTTTT
NM_001354827.1:c.249+11530_249+11531insCTTTTTTTTTTTTT NP_001341756.1:n.249+11530_249+11531insCTTTTTTTTTTTTT
NM_013261.4:c.234+11530_234+11531insCTTTTTTTTTTTTT NP_037393.1:n.234+11530_234+11531insCTTTTTTTTTTTTT
NR_148981.1:n.700+11530_700+11531insCTTTTTTTTTTTTT
NR_148982.1:n.803+11530_803+11531insCTTTTTTTTTTTTT
NR_148983.1:n.956+4492_956+4493insCTTTTTTTTTTTTT
NR_148984.1:n.354+11530_354+11531insCTTTTTTTTTTTTT
NR_148985.1:n.868+11530_868+11531insCTTTTTTTTTTTTT
NR_148986.1:n.700+11530_700+11531insCTTTTTTTTTTTTT
NR_148987.1:n.700+11530_700+11531insCTTTTTTTTTTTTT
XM_005248131.5:c.246+11530_246+11531insCTTTTTTTTTTTTT XP_005248188.1:n.246+11530_246+11531insCTTTTTTTTTTTTT
XM_005248134.4:c.249+11530_249+11531insCTTTTTTTTTTTTT XP_005248191.1:n.249+11530_249+11531insCTTTTTTTTTTTTT
XM_011513769.2:c.249+11530_249+11531insCTTTTTTTTTTTTT XP_011512071.1:n.249+11530_249+11531insCTTTTTTTTTTTTT
XM_024453878.1:c.249+11530_249+11531insCTTTTTTTTTTTTT XP_024309646.1:n.249+11530_249+11531insCTTTTTTTTTTTTT
NM_013261.5:c.234+11530_234+11531insCTTTTTTTTTTTTT MANE Select NP_037393.1:n.234+11530_234+11531insCTTTTTTTTTTTTT
NM_001330751.2:c.249+11530_249+11531insCTTTTTTTTTTTTT NP_001317680.1:n.249+11530_249+11531insCTTTTTTTTTTTTT
NM_001330752.2:c.198+11530_198+11531insCTTTTTTTTTTTTT NP_001317681.1:n.198+11530_198+11531insCTTTTTTTTTTTTT
NM_001354825.2:c.249+11530_249+11531insCTTTTTTTTTTTTT NP_001341754.1:n.249+11530_249+11531insCTTTTTTTTTTTTT
NM_001354826.2:c.-148+11089_-148+11090insCTTTTTTTTTTTTT NP_001341755.1:n.-148+11089_-148+11090insCTTTTTTTTTTTTT
NM_001354827.2:c.249+11530_249+11531insCTTTTTTTTTTTTT NP_001341756.1:n.249+11530_249+11531insCTTTTTTTTTTTTT
NR_148981.2:n.776+11530_776+11531insCTTTTTTTTTTTTT
NR_148982.2:n.879+11530_879+11531insCTTTTTTTTTTTTT
NR_148983.2:n.1032+4492_1032+4493insCTTTTTTTTTTTTT
NR_148984.2:n.324+11530_324+11531insCTTTTTTTTTTTTT
NR_148985.2:n.944+11530_944+11531insCTTTTTTTTTTTTT
NR_148986.2:n.776+11530_776+11531insCTTTTTTTTTTTTT
NR_148987.2:n.776+11530_776+11531insCTTTTTTTTTTTTT
NM_001330753.2:c.-148+7507_-148+7508insCTTTTTTTTTTTTT NP_001317682.1:n.-148+7507_-148+7508insCTTTTTTTTTTTTT
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