Canonical Allele Identifier: CA550663984

Gene: PPARGC1A

Linked Data

• gnomAD v2: 4-23815672-T-TGCTTCGTCGTCAAAAACA
• gnomAD v4: 4-23814049-T-TGCTTCGTCGTCAAAAACA
• MyVariant Identifiers: chr4:g.23815672_23815673insGCTTCGTCGTCAAAAACA (hg19) ; chr4:g.23814049_23814050insGCTTCGTCGTCAAAAACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814054_23814071dup , CM000666.2:g.23814054_23814071dup	GRCh38
NC_000004.11:g.23815677_23815694dup , CM000666.1:g.23815677_23815694dup	GRCh37
NC_000004.10:g.23424775_23424792dup	NCBI36
NG_028250.1:g.81011_81028dup
NG_028250.2:g.663909_663926dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1416_1433dup MANE Select	ENSP00000264867.2:p.Ala478_Asp479insValPheAspAspGluAla
ENST00000264867.6:c.1416_1433dup	ENSP00000264867.2:p.Ala478_Asp479insValPheAspAspGluAla
ENST00000506055.5:c.*631_*648dup	ENSP00000423075.1:n.*631_*648dup
ENST00000509702.5:n.1456_1473dup
ENST00000613098.4:c.1035_1052dup	ENSP00000481498.1:p.Ala351_Asp352insValPheAspAspGluAla
NM_013261.3:c.1416_1433dup	NP_037393.1:p.Ala478_Asp479insValPheAspAspGluAla
XM_005248130.2:c.1431_1448dup	XP_005248187.1:p.Ala483_Asp484insValPheAspAspGluAla
XM_005248131.3:c.1428_1445dup	XP_005248188.1:p.Ala482_Asp483insValPheAspAspGluAla
XM_005248132.1:c.1407_1424dup	XP_005248189.1:p.Ala475_Asp476insValPheAspAspGluAla
XM_005248134.3:c.1431_1448dup	XP_005248191.1:p.Ala483_Asp484insValPheAspAspGluAla
XM_011513764.1:c.1416_1433dup	XP_011512066.1:p.Ala478_Asp479insValPheAspAspGluAla
XM_011513765.1:c.1380_1397dup	XP_011512067.1:p.Ala466_Asp467insValPheAspAspGluAla
XM_011513766.1:c.1311_1328dup	XP_011512068.1:p.Ala443_Asp444insValPheAspAspGluAla
XM_011513767.1:c.1311_1328dup	XP_011512069.1:p.Ala443_Asp444insValPheAspAspGluAla
XM_011513768.1:c.1311_1328dup	XP_011512070.1:p.Ala443_Asp444insValPheAspAspGluAla
XM_011513769.1:c.1431_1448dup	XP_011512071.1:p.Ala483_Asp484insValPheAspAspGluAla
XM_011513770.1:c.1035_1052dup	XP_011512072.1:p.Ala351_Asp352insValPheAspAspGluAla
XM_011513771.1:c.1035_1052dup	XP_011512073.1:p.Ala351_Asp352insValPheAspAspGluAla
NM_001330751.1:c.1431_1448dup	NP_001317680.1:p.Ala483_Asp484insValPheAspAspGluAla
NM_001330752.1:c.1380_1397dup	NP_001317681.1:p.Ala466_Asp467insValPheAspAspGluAla
NM_001330753.1:c.1035_1052dup	NP_001317682.1:p.Ala351_Asp352insValPheAspAspGluAla
NM_001354825.1:c.1431_1448dup	NP_001341754.1:p.Ala483_Asp484insValPheAspAspGluAla
NM_001354826.1:c.1035_1052dup	NP_001341755.1:p.Ala351_Asp352insValPheAspAspGluAla
NM_001354827.1:c.1431_1448dup	NP_001341756.1:p.Ala483_Asp484insValPheAspAspGluAla
NM_013261.4:c.1416_1433dup	NP_037393.1:p.Ala478_Asp479insValPheAspAspGluAla
NR_148981.1:n.1943_1960dup
NR_148982.1:n.2016_2033dup
NR_148983.1:n.2169_2186dup
NR_148984.1:n.1567_1584dup
NR_148985.1:n.2081_2098dup
NR_148986.1:n.2086_2103dup
NR_148987.1:n.2168_2185dup
XM_005248131.5:c.1428_1445dup	XP_005248188.1:p.Ala482_Asp483insValPheAspAspGluAla
XM_005248134.4:c.1431_1448dup	XP_005248191.1:p.Ala483_Asp484insValPheAspAspGluAla
XM_011513769.2:c.1431_1448dup	XP_011512071.1:p.Ala483_Asp484insValPheAspAspGluAla
XM_024453878.1:c.1431_1448dup	XP_024309646.1:p.Ala483_Asp484insValPheAspAspGluAla
NM_013261.5:c.1416_1433dup MANE Select	NP_037393.1:p.Ala478_Asp479insValPheAspAspGluAla
NM_001330751.2:c.1431_1448dup	NP_001317680.1:p.Ala483_Asp484insValPheAspAspGluAla
NM_001330752.2:c.1380_1397dup	NP_001317681.1:p.Ala466_Asp467insValPheAspAspGluAla
NM_001354825.2:c.1431_1448dup	NP_001341754.1:p.Ala483_Asp484insValPheAspAspGluAla
NM_001354826.2:c.1035_1052dup	NP_001341755.1:p.Ala351_Asp352insValPheAspAspGluAla
NM_001354827.2:c.1431_1448dup	NP_001341756.1:p.Ala483_Asp484insValPheAspAspGluAla
NR_148981.2:n.2019_2036dup
NR_148982.2:n.2092_2109dup
NR_148983.2:n.2245_2262dup
NR_148984.2:n.1537_1554dup
NR_148985.2:n.2157_2174dup
NR_148986.2:n.2162_2179dup
NR_148987.2:n.2244_2261dup
NM_001330753.2:c.1035_1052dup	NP_001317682.1:p.Ala351_Asp352insValPheAspAspGluAla