Canonical Allele Identifier: CA2535996777

Gene: PPARGC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814240del , CM000666.2:g.23814240del	GRCh38
NC_000004.11:g.23815863del , CM000666.1:g.23815863del	GRCh37
NC_000004.10:g.23424961del	NCBI36
NG_028250.1:g.80838del
NG_028250.2:g.663736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1243del MANE Select	ENSP00000264867.2:p.Val415SerfsTer20
ENST00000264867.6:c.1243del	ENSP00000264867.2:p.Val415SerfsTer20
ENST00000506055.5:c.*458del	ENSP00000423075.1:n.*458del
ENST00000509702.5:n.1283del
ENST00000613098.4:c.862del	ENSP00000481498.1:p.Val288SerfsTer20
NM_013261.3:c.1243del	NP_037393.1:p.Val415SerfsTer20
XM_005248130.2:c.1258del	XP_005248187.1:p.Val420SerfsTer20
XM_005248131.3:c.1255del	XP_005248188.1:p.Val419SerfsTer20
XM_005248132.1:c.1234del	XP_005248189.1:p.Val412SerfsTer20
XM_005248134.3:c.1258del	XP_005248191.1:p.Val420SerfsTer20
XM_011513764.1:c.1243del	XP_011512066.1:p.Val415SerfsTer20
XM_011513765.1:c.1207del	XP_011512067.1:p.Val403SerfsTer20
XM_011513766.1:c.1138del	XP_011512068.1:p.Val380SerfsTer20
XM_011513767.1:c.1138del	XP_011512069.1:p.Val380SerfsTer20
XM_011513768.1:c.1138del	XP_011512070.1:p.Val380SerfsTer20
XM_011513769.1:c.1258del	XP_011512071.1:p.Val420SerfsTer20
XM_011513770.1:c.862del	XP_011512072.1:p.Val288SerfsTer20
XM_011513771.1:c.862del	XP_011512073.1:p.Val288SerfsTer20
NM_001330751.1:c.1258del	NP_001317680.1:p.Val420SerfsTer20
NM_001330752.1:c.1207del	NP_001317681.1:p.Val403SerfsTer20
NM_001330753.1:c.862del	NP_001317682.1:p.Val288SerfsTer20
NM_001354825.1:c.1258del	NP_001341754.1:p.Val420SerfsTer20
NM_001354826.1:c.862del	NP_001341755.1:p.Val288SerfsTer20
NM_001354827.1:c.1258del	NP_001341756.1:p.Val420SerfsTer20
NM_013261.4:c.1243del	NP_037393.1:p.Val415SerfsTer20
NR_148981.1:n.1770del
NR_148982.1:n.1843del
NR_148983.1:n.1996del
NR_148984.1:n.1394del
NR_148985.1:n.1908del
NR_148986.1:n.1913del
NR_148987.1:n.1995del
XM_005248131.5:c.1255del	XP_005248188.1:p.Val419SerfsTer20
XM_005248134.4:c.1258del	XP_005248191.1:p.Val420SerfsTer20
XM_011513769.2:c.1258del	XP_011512071.1:p.Val420SerfsTer20
XM_024453878.1:c.1258del	XP_024309646.1:p.Val420SerfsTer20
NM_013261.5:c.1243del MANE Select	NP_037393.1:p.Val415SerfsTer20
NM_001330751.2:c.1258del	NP_001317680.1:p.Val420SerfsTer20
NM_001330752.2:c.1207del	NP_001317681.1:p.Val403SerfsTer20
NM_001354825.2:c.1258del	NP_001341754.1:p.Val420SerfsTer20
NM_001354826.2:c.862del	NP_001341755.1:p.Val288SerfsTer20
NM_001354827.2:c.1258del	NP_001341756.1:p.Val420SerfsTer20
NR_148981.2:n.1846del
NR_148982.2:n.1919del
NR_148983.2:n.2072del
NR_148984.2:n.1364del
NR_148985.2:n.1984del
NR_148986.2:n.1989del
NR_148987.2:n.2071del
NM_001330753.2:c.862del	NP_001317682.1:p.Val288SerfsTer20