Canonical Allele Identifier: CA550430211

Gene: PPARGC1A

Linked Data

• gnomAD v2: 4-23874822-A-AAAAAAAAAAC
• gnomAD v3: 4-23873199-A-AAAAAAAAAAC
• gnomAD v4: 4-23873199-A-AAAAAAAAAAC
• MyVariant Identifiers: chr4:g.23874822_23874823insAAAAAAAAAC (hg19) ; chr4:g.23873199_23873200insAAAAAAAAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23873202_23873203insAAAAAACAAA , CM000666.2:g.23873202_23873203insAAAAAACAAA	GRCh38
NC_000004.11:g.23874825_23874826insAAAAAACAAA , CM000666.1:g.23874825_23874826insAAAAAACAAA	GRCh37
NC_000004.10:g.23483923_23483924insAAAAAACAAA	NCBI36
NG_028250.1:g.21878_21879insGTTTTTTTTT
NG_028250.2:g.604776_604777insGTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.234+11552_234+11553insGTTTTTTTTT MANE Select	ENSP00000264867.2:n.234+11552_234+11553insGTTTTTTTTT
ENST00000264867.6:c.234+11552_234+11553insGTTTTTTTTT	ENSP00000264867.2:n.234+11552_234+11553insGTTTTTTTTT
ENST00000506055.5:c.234+11552_234+11553insGTTTTTTTTT	ENSP00000423075.1:n.234+11552_234+11553insGTTTTTTTTT
ENST00000507342.5:n.314+11552_314+11553insGTTTTTTTTT
ENST00000508380.1:n.154+8758_154+8759insGTTTTTTTTT
ENST00000509642.5:n.327+4514_327+4515insGTTTTTTTTT
ENST00000509702.5:n.191+8721_191+8722insGTTTTTTTTT
ENST00000512169.1:n.327+4514_327+4515insGTTTTTTTTT
ENST00000513205.5:c.234+11552_234+11553insGTTTTTTTTT	ENSP00000421632.1:n.234+11552_234+11553insGTTTTTTTTT
ENST00000515534.5:n.307-6954_307-6953insGTTTTTTTTT
ENST00000612355.1:c.222+11552_222+11553insGTTTTTTTTT	ENSP00000479729.1:n.222+11552_222+11553insGTTTTTTTTT
ENST00000613098.4:c.-148+7529_-148+7530insGTTTTTTTTT	ENSP00000481498.1:n.-148+7529_-148+7530insGTTTTTTTTT
ENST00000617484.4:c.222+11552_222+11553insGTTTTTTTTT	ENSP00000477921.1:n.222+11552_222+11553insGTTTTTTTTT
NM_013261.3:c.234+11552_234+11553insGTTTTTTTTT	NP_037393.1:n.234+11552_234+11553insGTTTTTTTTT
XM_005248130.2:c.249+11552_249+11553insGTTTTTTTTT	XP_005248187.1:n.249+11552_249+11553insGTTTTTTTTT
XM_005248131.3:c.246+11552_246+11553insGTTTTTTTTT	XP_005248188.1:n.246+11552_246+11553insGTTTTTTTTT
XM_005248132.1:c.225+11552_225+11553insGTTTTTTTTT	XP_005248189.1:n.225+11552_225+11553insGTTTTTTTTT
XM_005248134.3:c.249+11552_249+11553insGTTTTTTTTT	XP_005248191.1:n.249+11552_249+11553insGTTTTTTTTT
XM_011513764.1:c.234+11552_234+11553insGTTTTTTTTT	XP_011512066.1:n.234+11552_234+11553insGTTTTTTTTT
XM_011513765.1:c.198+11552_198+11553insGTTTTTTTTT	XP_011512067.1:n.198+11552_198+11553insGTTTTTTTTT
XM_011513766.1:c.129+4514_129+4515insGTTTTTTTTT	XP_011512068.1:n.129+4514_129+4515insGTTTTTTTTT
XM_011513767.1:c.129+4514_129+4515insGTTTTTTTTT	XP_011512069.1:n.129+4514_129+4515insGTTTTTTTTT
XM_011513768.1:c.129+4514_129+4515insGTTTTTTTTT	XP_011512070.1:n.129+4514_129+4515insGTTTTTTTTT
XM_011513769.1:c.249+11552_249+11553insGTTTTTTTTT	XP_011512071.1:n.249+11552_249+11553insGTTTTTTTTT
XM_011513770.1:c.-148+7529_-148+7530insGTTTTTTTTT	XP_011512072.1:n.-148+7529_-148+7530insGTTTTTTTTT
XM_011513771.1:c.-148+8758_-148+8759insGTTTTTTTTT	XP_011512073.1:n.-148+8758_-148+8759insGTTTTTTTTT
NM_001330751.1:c.249+11552_249+11553insGTTTTTTTTT	NP_001317680.1:n.249+11552_249+11553insGTTTTTTTTT
NM_001330752.1:c.198+11552_198+11553insGTTTTTTTTT	NP_001317681.1:n.198+11552_198+11553insGTTTTTTTTT
NM_001330753.1:c.-148+7529_-148+7530insGTTTTTTTTT	NP_001317682.1:n.-148+7529_-148+7530insGTTTTTTTTT
NM_001354825.1:c.249+11552_249+11553insGTTTTTTTTT	NP_001341754.1:n.249+11552_249+11553insGTTTTTTTTT
NM_001354826.1:c.-148+11111_-148+11112insGTTTTTTTTT	NP_001341755.1:n.-148+11111_-148+11112insGTTTTTTTTT
NM_001354827.1:c.249+11552_249+11553insGTTTTTTTTT	NP_001341756.1:n.249+11552_249+11553insGTTTTTTTTT
NM_013261.4:c.234+11552_234+11553insGTTTTTTTTT	NP_037393.1:n.234+11552_234+11553insGTTTTTTTTT
NR_148981.1:n.700+11552_700+11553insGTTTTTTTTT
NR_148982.1:n.803+11552_803+11553insGTTTTTTTTT
NR_148983.1:n.956+4514_956+4515insGTTTTTTTTT
NR_148984.1:n.354+11552_354+11553insGTTTTTTTTT
NR_148985.1:n.868+11552_868+11553insGTTTTTTTTT
NR_148986.1:n.700+11552_700+11553insGTTTTTTTTT
NR_148987.1:n.700+11552_700+11553insGTTTTTTTTT
XM_005248131.5:c.246+11552_246+11553insGTTTTTTTTT	XP_005248188.1:n.246+11552_246+11553insGTTTTTTTTT
XM_005248134.4:c.249+11552_249+11553insGTTTTTTTTT	XP_005248191.1:n.249+11552_249+11553insGTTTTTTTTT
XM_011513769.2:c.249+11552_249+11553insGTTTTTTTTT	XP_011512071.1:n.249+11552_249+11553insGTTTTTTTTT
XM_024453878.1:c.249+11552_249+11553insGTTTTTTTTT	XP_024309646.1:n.249+11552_249+11553insGTTTTTTTTT
NM_013261.5:c.234+11552_234+11553insGTTTTTTTTT MANE Select	NP_037393.1:n.234+11552_234+11553insGTTTTTTTTT
NM_001330751.2:c.249+11552_249+11553insGTTTTTTTTT	NP_001317680.1:n.249+11552_249+11553insGTTTTTTTTT
NM_001330752.2:c.198+11552_198+11553insGTTTTTTTTT	NP_001317681.1:n.198+11552_198+11553insGTTTTTTTTT
NM_001354825.2:c.249+11552_249+11553insGTTTTTTTTT	NP_001341754.1:n.249+11552_249+11553insGTTTTTTTTT
NM_001354826.2:c.-148+11111_-148+11112insGTTTTTTTTT	NP_001341755.1:n.-148+11111_-148+11112insGTTTTTTTTT
NM_001354827.2:c.249+11552_249+11553insGTTTTTTTTT	NP_001341756.1:n.249+11552_249+11553insGTTTTTTTTT
NR_148981.2:n.776+11552_776+11553insGTTTTTTTTT
NR_148982.2:n.879+11552_879+11553insGTTTTTTTTT
NR_148983.2:n.1032+4514_1032+4515insGTTTTTTTTT
NR_148984.2:n.324+11552_324+11553insGTTTTTTTTT
NR_148985.2:n.944+11552_944+11553insGTTTTTTTTT
NR_148986.2:n.776+11552_776+11553insGTTTTTTTTT
NR_148987.2:n.776+11552_776+11553insGTTTTTTTTT
NM_001330753.2:c.-148+7529_-148+7530insGTTTTTTTTT	NP_001317682.1:n.-148+7529_-148+7530insGTTTTTTTTT