Canonical Allele Identifier: CA2562902288

Gene: PPARGC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814229_23814230del , CM000666.2:g.23814229_23814230del	GRCh38
NC_000004.11:g.23815852_23815853del , CM000666.1:g.23815852_23815853del	GRCh37
NC_000004.10:g.23424950_23424951del	NCBI36
NG_028250.1:g.80848_80849del
NG_028250.2:g.663746_663747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1253_1254del MANE Select	ENSP00000264867.2:p.Asp418ValfsTer?
ENST00000264867.6:c.1253_1254del	ENSP00000264867.2:p.Asp418ValfsTer?
ENST00000506055.5:c.*468_*469del	ENSP00000423075.1:n.*468_*469del
ENST00000509702.5:n.1293_1294del
ENST00000613098.4:c.872_873del	ENSP00000481498.1:p.Asp291ValfsTer?
NM_013261.3:c.1253_1254del	NP_037393.1:p.Asp418ValfsTer?
XM_005248130.2:c.1268_1269del	XP_005248187.1:p.Asp423ValfsTer?
XM_005248131.3:c.1265_1266del	XP_005248188.1:p.Asp422ValfsTer?
XM_005248132.1:c.1244_1245del	XP_005248189.1:p.Asp415ValfsTer?
XM_005248134.3:c.1268_1269del	XP_005248191.1:p.Asp423ValfsTer?
XM_011513764.1:c.1253_1254del	XP_011512066.1:p.Asp418ValfsTer?
XM_011513765.1:c.1217_1218del	XP_011512067.1:p.Asp406ValfsTer?
XM_011513766.1:c.1148_1149del	XP_011512068.1:p.Asp383ValfsTer?
XM_011513767.1:c.1148_1149del	XP_011512069.1:p.Asp383ValfsTer?
XM_011513768.1:c.1148_1149del	XP_011512070.1:p.Asp383ValfsTer?
XM_011513769.1:c.1268_1269del	XP_011512071.1:p.Asp423ValfsTer?
XM_011513770.1:c.872_873del	XP_011512072.1:p.Asp291ValfsTer?
XM_011513771.1:c.872_873del	XP_011512073.1:p.Asp291ValfsTer?
NM_001330751.1:c.1268_1269del	NP_001317680.1:p.Asp423ValfsTer?
NM_001330752.1:c.1217_1218del	NP_001317681.1:p.Asp406ValfsTer?
NM_001330753.1:c.872_873del	NP_001317682.1:p.Asp291ValfsTer?
NM_001354825.1:c.1268_1269del	NP_001341754.1:p.Asp423ValfsTer?
NM_001354826.1:c.872_873del	NP_001341755.1:p.Asp291ValfsTer?
NM_001354827.1:c.1268_1269del	NP_001341756.1:p.Asp423ValfsTer?
NM_013261.4:c.1253_1254del	NP_037393.1:p.Asp418ValfsTer?
NR_148981.1:n.1780_1781del
NR_148982.1:n.1853_1854del
NR_148983.1:n.2006_2007del
NR_148984.1:n.1404_1405del
NR_148985.1:n.1918_1919del
NR_148986.1:n.1923_1924del
NR_148987.1:n.2005_2006del
XM_005248131.5:c.1265_1266del	XP_005248188.1:p.Asp422ValfsTer?
XM_005248134.4:c.1268_1269del	XP_005248191.1:p.Asp423ValfsTer?
XM_011513769.2:c.1268_1269del	XP_011512071.1:p.Asp423ValfsTer?
XM_024453878.1:c.1268_1269del	XP_024309646.1:p.Asp423ValfsTer?
NM_013261.5:c.1253_1254del MANE Select	NP_037393.1:p.Asp418ValfsTer?
NM_001330751.2:c.1268_1269del	NP_001317680.1:p.Asp423ValfsTer?
NM_001330752.2:c.1217_1218del	NP_001317681.1:p.Asp406ValfsTer?
NM_001354825.2:c.1268_1269del	NP_001341754.1:p.Asp423ValfsTer?
NM_001354826.2:c.872_873del	NP_001341755.1:p.Asp291ValfsTer?
NM_001354827.2:c.1268_1269del	NP_001341756.1:p.Asp423ValfsTer?
NR_148981.2:n.1856_1857del
NR_148982.2:n.1929_1930del
NR_148983.2:n.2082_2083del
NR_148984.2:n.1374_1375del
NR_148985.2:n.1994_1995del
NR_148986.2:n.1999_2000del
NR_148987.2:n.2081_2082del
NM_001330753.2:c.872_873del	NP_001317682.1:p.Asp291ValfsTer?