Canonical Allele Identifier: CA1060221943

Gene: PPARGC1A

Linked Data

• gnomAD v3: 4-23873216-ATAAAAAATAAAG-A
• gnomAD v4: 4-23873216-ATAAAAAATAAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23873217_23873228del , CM000666.2:g.23873217_23873228del	GRCh38
NC_000004.11:g.23874840_23874851del , CM000666.1:g.23874840_23874851del	GRCh37
NC_000004.10:g.23483938_23483949del	NCBI36
NG_028250.1:g.21850_21861del
NG_028250.2:g.604748_604759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.234+11524_234+11535del MANE Select	ENSP00000264867.2:n.234+11524_234+11535del
ENST00000264867.6:c.234+11524_234+11535del	ENSP00000264867.2:n.234+11524_234+11535del
ENST00000506055.5:c.234+11524_234+11535del	ENSP00000423075.1:n.234+11524_234+11535del
ENST00000507342.5:n.314+11524_314+11535del
ENST00000508380.1:n.154+8730_154+8741del
ENST00000509642.5:n.327+4486_327+4497del
ENST00000509702.5:n.191+8693_191+8704del
ENST00000512169.1:n.327+4486_327+4497del
ENST00000513205.5:c.234+11524_234+11535del	ENSP00000421632.1:n.234+11524_234+11535del
ENST00000515534.5:n.307-6982_307-6971del
ENST00000612355.1:c.222+11524_222+11535del	ENSP00000479729.1:n.222+11524_222+11535del
ENST00000613098.4:c.-148+7501_-148+7512del	ENSP00000481498.1:n.-148+7501_-148+7512del
ENST00000617484.4:c.222+11524_222+11535del	ENSP00000477921.1:n.222+11524_222+11535del
NM_013261.3:c.234+11524_234+11535del	NP_037393.1:n.234+11524_234+11535del
XM_005248130.2:c.249+11524_249+11535del	XP_005248187.1:n.249+11524_249+11535del
XM_005248131.3:c.246+11524_246+11535del	XP_005248188.1:n.246+11524_246+11535del
XM_005248132.1:c.225+11524_225+11535del	XP_005248189.1:n.225+11524_225+11535del
XM_005248134.3:c.249+11524_249+11535del	XP_005248191.1:n.249+11524_249+11535del
XM_011513764.1:c.234+11524_234+11535del	XP_011512066.1:n.234+11524_234+11535del
XM_011513765.1:c.198+11524_198+11535del	XP_011512067.1:n.198+11524_198+11535del
XM_011513766.1:c.129+4486_129+4497del	XP_011512068.1:n.129+4486_129+4497del
XM_011513767.1:c.129+4486_129+4497del	XP_011512069.1:n.129+4486_129+4497del
XM_011513768.1:c.129+4486_129+4497del	XP_011512070.1:n.129+4486_129+4497del
XM_011513769.1:c.249+11524_249+11535del	XP_011512071.1:n.249+11524_249+11535del
XM_011513770.1:c.-148+7501_-148+7512del	XP_011512072.1:n.-148+7501_-148+7512del
XM_011513771.1:c.-148+8730_-148+8741del	XP_011512073.1:n.-148+8730_-148+8741del
NM_001330751.1:c.249+11524_249+11535del	NP_001317680.1:n.249+11524_249+11535del
NM_001330752.1:c.198+11524_198+11535del	NP_001317681.1:n.198+11524_198+11535del
NM_001330753.1:c.-148+7501_-148+7512del	NP_001317682.1:n.-148+7501_-148+7512del
NM_001354825.1:c.249+11524_249+11535del	NP_001341754.1:n.249+11524_249+11535del
NM_001354826.1:c.-148+11083_-148+11094del	NP_001341755.1:n.-148+11083_-148+11094del
NM_001354827.1:c.249+11524_249+11535del	NP_001341756.1:n.249+11524_249+11535del
NM_013261.4:c.234+11524_234+11535del	NP_037393.1:n.234+11524_234+11535del
NR_148981.1:n.700+11524_700+11535del
NR_148982.1:n.803+11524_803+11535del
NR_148983.1:n.956+4486_956+4497del
NR_148984.1:n.354+11524_354+11535del
NR_148985.1:n.868+11524_868+11535del
NR_148986.1:n.700+11524_700+11535del
NR_148987.1:n.700+11524_700+11535del
XM_005248131.5:c.246+11524_246+11535del	XP_005248188.1:n.246+11524_246+11535del
XM_005248134.4:c.249+11524_249+11535del	XP_005248191.1:n.249+11524_249+11535del
XM_011513769.2:c.249+11524_249+11535del	XP_011512071.1:n.249+11524_249+11535del
XM_024453878.1:c.249+11524_249+11535del	XP_024309646.1:n.249+11524_249+11535del
NM_013261.5:c.234+11524_234+11535del MANE Select	NP_037393.1:n.234+11524_234+11535del
NM_001330751.2:c.249+11524_249+11535del	NP_001317680.1:n.249+11524_249+11535del
NM_001330752.2:c.198+11524_198+11535del	NP_001317681.1:n.198+11524_198+11535del
NM_001354825.2:c.249+11524_249+11535del	NP_001341754.1:n.249+11524_249+11535del
NM_001354826.2:c.-148+11083_-148+11094del	NP_001341755.1:n.-148+11083_-148+11094del
NM_001354827.2:c.249+11524_249+11535del	NP_001341756.1:n.249+11524_249+11535del
NR_148981.2:n.776+11524_776+11535del
NR_148982.2:n.879+11524_879+11535del
NR_148983.2:n.1032+4486_1032+4497del
NR_148984.2:n.324+11524_324+11535del
NR_148985.2:n.944+11524_944+11535del
NR_148986.2:n.776+11524_776+11535del
NR_148987.2:n.776+11524_776+11535del
NM_001330753.2:c.-148+7501_-148+7512del	NP_001317682.1:n.-148+7501_-148+7512del