Canonical Allele Identifier: CA2525701385
Gene: PPARGC1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.23814174_23814175insTTATAAATTCAGGA , CM000666.2:g.23814174_23814175insTTATAAATTCAGGA GRCh38
NC_000004.11:g.23815797_23815798insTTATAAATTCAGGA , CM000666.1:g.23815797_23815798insTTATAAATTCAGGA GRCh37
NC_000004.10:g.23424895_23424896insTTATAAATTCAGGA NCBI36
NG_028250.1:g.80903_80904insTCCTGAATTTATAA
NG_028250.2:g.663801_663802insTCCTGAATTTATAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264867.7:c.1308_1309insTCCTGAATTTATAA MANE Select ENSP00000264867.2:p.Thr437SerfsTer2
ENST00000264867.6:c.1308_1309insTCCTGAATTTATAA ENSP00000264867.2:p.Thr437SerfsTer2
ENST00000506055.5:c.*523_*524insTCCTGAATTTATAA ENSP00000423075.1:n.*523_*524insTCCTGAATTTATAA
ENST00000509702.5:n.1348_1349insTCCTGAATTTATAA
ENST00000613098.4:c.927_928insTCCTGAATTTATAA ENSP00000481498.1:p.Thr310SerfsTer2
NM_013261.3:c.1308_1309insTCCTGAATTTATAA NP_037393.1:p.Thr437SerfsTer2
XM_005248130.2:c.1323_1324insTCCTGAATTTATAA XP_005248187.1:p.Thr442SerfsTer2
XM_005248131.3:c.1320_1321insTCCTGAATTTATAA XP_005248188.1:p.Thr441SerfsTer2
XM_005248132.1:c.1299_1300insTCCTGAATTTATAA XP_005248189.1:p.Thr434SerfsTer2
XM_005248134.3:c.1323_1324insTCCTGAATTTATAA XP_005248191.1:p.Thr442SerfsTer2
XM_011513764.1:c.1308_1309insTCCTGAATTTATAA XP_011512066.1:p.Thr437SerfsTer2
XM_011513765.1:c.1272_1273insTCCTGAATTTATAA XP_011512067.1:p.Thr425SerfsTer2
XM_011513766.1:c.1203_1204insTCCTGAATTTATAA XP_011512068.1:p.Thr402SerfsTer2
XM_011513767.1:c.1203_1204insTCCTGAATTTATAA XP_011512069.1:p.Thr402SerfsTer2
XM_011513768.1:c.1203_1204insTCCTGAATTTATAA XP_011512070.1:p.Thr402SerfsTer2
XM_011513769.1:c.1323_1324insTCCTGAATTTATAA XP_011512071.1:p.Thr442SerfsTer2
XM_011513770.1:c.927_928insTCCTGAATTTATAA XP_011512072.1:p.Thr310SerfsTer2
XM_011513771.1:c.927_928insTCCTGAATTTATAA XP_011512073.1:p.Thr310SerfsTer2
NM_001330751.1:c.1323_1324insTCCTGAATTTATAA NP_001317680.1:p.Thr442SerfsTer2
NM_001330752.1:c.1272_1273insTCCTGAATTTATAA NP_001317681.1:p.Thr425SerfsTer2
NM_001330753.1:c.927_928insTCCTGAATTTATAA NP_001317682.1:p.Thr310SerfsTer2
NM_001354825.1:c.1323_1324insTCCTGAATTTATAA NP_001341754.1:p.Thr442SerfsTer2
NM_001354826.1:c.927_928insTCCTGAATTTATAA NP_001341755.1:p.Thr310SerfsTer2
NM_001354827.1:c.1323_1324insTCCTGAATTTATAA NP_001341756.1:p.Thr442SerfsTer2
NM_013261.4:c.1308_1309insTCCTGAATTTATAA NP_037393.1:p.Thr437SerfsTer2
NR_148981.1:n.1835_1836insTCCTGAATTTATAA
NR_148982.1:n.1908_1909insTCCTGAATTTATAA
NR_148983.1:n.2061_2062insTCCTGAATTTATAA
NR_148984.1:n.1459_1460insTCCTGAATTTATAA
NR_148985.1:n.1973_1974insTCCTGAATTTATAA
NR_148986.1:n.1978_1979insTCCTGAATTTATAA
NR_148987.1:n.2060_2061insTCCTGAATTTATAA
XM_005248131.5:c.1320_1321insTCCTGAATTTATAA XP_005248188.1:p.Thr441SerfsTer2
XM_005248134.4:c.1323_1324insTCCTGAATTTATAA XP_005248191.1:p.Thr442SerfsTer2
XM_011513769.2:c.1323_1324insTCCTGAATTTATAA XP_011512071.1:p.Thr442SerfsTer2
XM_024453878.1:c.1323_1324insTCCTGAATTTATAA XP_024309646.1:p.Thr442SerfsTer2
NM_013261.5:c.1308_1309insTCCTGAATTTATAA MANE Select NP_037393.1:p.Thr437SerfsTer2
NM_001330751.2:c.1323_1324insTCCTGAATTTATAA NP_001317680.1:p.Thr442SerfsTer2
NM_001330752.2:c.1272_1273insTCCTGAATTTATAA NP_001317681.1:p.Thr425SerfsTer2
NM_001354825.2:c.1323_1324insTCCTGAATTTATAA NP_001341754.1:p.Thr442SerfsTer2
NM_001354826.2:c.927_928insTCCTGAATTTATAA NP_001341755.1:p.Thr310SerfsTer2
NM_001354827.2:c.1323_1324insTCCTGAATTTATAA NP_001341756.1:p.Thr442SerfsTer2
NR_148981.2:n.1911_1912insTCCTGAATTTATAA
NR_148982.2:n.1984_1985insTCCTGAATTTATAA
NR_148983.2:n.2137_2138insTCCTGAATTTATAA
NR_148984.2:n.1429_1430insTCCTGAATTTATAA
NR_148985.2:n.2049_2050insTCCTGAATTTATAA
NR_148986.2:n.2054_2055insTCCTGAATTTATAA
NR_148987.2:n.2136_2137insTCCTGAATTTATAA
NM_001330753.2:c.927_928insTCCTGAATTTATAA NP_001317682.1:p.Thr310SerfsTer2