Canonical Allele Identifier: CA2566987513

Gene: PPARGC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814205_23814206insA , CM000666.2:g.23814205_23814206insA	GRCh38
NC_000004.11:g.23815828_23815829insA , CM000666.1:g.23815828_23815829insA	GRCh37
NC_000004.10:g.23424926_23424927insA	NCBI36
NG_028250.1:g.80872_80873insT
NG_028250.2:g.663770_663771insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1277_1278insT MANE Select	ENSP00000264867.2:p.Thr427HisfsTer?
ENST00000264867.6:c.1277_1278insT	ENSP00000264867.2:p.Thr427HisfsTer?
ENST00000506055.5:c.*492_*493insT	ENSP00000423075.1:n.*492_*493insT
ENST00000509702.5:n.1317_1318insT
ENST00000613098.4:c.896_897insT	ENSP00000481498.1:p.Thr300HisfsTer?
NM_013261.3:c.1277_1278insT	NP_037393.1:p.Thr427HisfsTer?
XM_005248130.2:c.1292_1293insT	XP_005248187.1:p.Thr432HisfsTer?
XM_005248131.3:c.1289_1290insT	XP_005248188.1:p.Thr431HisfsTer?
XM_005248132.1:c.1268_1269insT	XP_005248189.1:p.Thr424HisfsTer?
XM_005248134.3:c.1292_1293insT	XP_005248191.1:p.Thr432HisfsTer?
XM_011513764.1:c.1277_1278insT	XP_011512066.1:p.Thr427HisfsTer?
XM_011513765.1:c.1241_1242insT	XP_011512067.1:p.Thr415HisfsTer?
XM_011513766.1:c.1172_1173insT	XP_011512068.1:p.Thr392HisfsTer?
XM_011513767.1:c.1172_1173insT	XP_011512069.1:p.Thr392HisfsTer?
XM_011513768.1:c.1172_1173insT	XP_011512070.1:p.Thr392HisfsTer?
XM_011513769.1:c.1292_1293insT	XP_011512071.1:p.Thr432HisfsTer?
XM_011513770.1:c.896_897insT	XP_011512072.1:p.Thr300HisfsTer?
XM_011513771.1:c.896_897insT	XP_011512073.1:p.Thr300HisfsTer?
NM_001330751.1:c.1292_1293insT	NP_001317680.1:p.Thr432HisfsTer?
NM_001330752.1:c.1241_1242insT	NP_001317681.1:p.Thr415HisfsTer?
NM_001330753.1:c.896_897insT	NP_001317682.1:p.Thr300HisfsTer?
NM_001354825.1:c.1292_1293insT	NP_001341754.1:p.Thr432HisfsTer?
NM_001354826.1:c.896_897insT	NP_001341755.1:p.Thr300HisfsTer?
NM_001354827.1:c.1292_1293insT	NP_001341756.1:p.Thr432HisfsTer?
NM_013261.4:c.1277_1278insT	NP_037393.1:p.Thr427HisfsTer?
NR_148981.1:n.1804_1805insT
NR_148982.1:n.1877_1878insT
NR_148983.1:n.2030_2031insT
NR_148984.1:n.1428_1429insT
NR_148985.1:n.1942_1943insT
NR_148986.1:n.1947_1948insT
NR_148987.1:n.2029_2030insT
XM_005248131.5:c.1289_1290insT	XP_005248188.1:p.Thr431HisfsTer?
XM_005248134.4:c.1292_1293insT	XP_005248191.1:p.Thr432HisfsTer?
XM_011513769.2:c.1292_1293insT	XP_011512071.1:p.Thr432HisfsTer?
XM_024453878.1:c.1292_1293insT	XP_024309646.1:p.Thr432HisfsTer?
NM_013261.5:c.1277_1278insT MANE Select	NP_037393.1:p.Thr427HisfsTer?
NM_001330751.2:c.1292_1293insT	NP_001317680.1:p.Thr432HisfsTer?
NM_001330752.2:c.1241_1242insT	NP_001317681.1:p.Thr415HisfsTer?
NM_001354825.2:c.1292_1293insT	NP_001341754.1:p.Thr432HisfsTer?
NM_001354826.2:c.896_897insT	NP_001341755.1:p.Thr300HisfsTer?
NM_001354827.2:c.1292_1293insT	NP_001341756.1:p.Thr432HisfsTer?
NR_148981.2:n.1880_1881insT
NR_148982.2:n.1953_1954insT
NR_148983.2:n.2106_2107insT
NR_148984.2:n.1398_1399insT
NR_148985.2:n.2018_2019insT
NR_148986.2:n.2023_2024insT
NR_148987.2:n.2105_2106insT
NM_001330753.2:c.896_897insT	NP_001317682.1:p.Thr300HisfsTer?