Canonical Allele Identifier: CA2670198211

Gene: PPARGC1A

Linked Data

• gnomAD v4: 4-23814255-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814257del , CM000666.2:g.23814257del	GRCh38
NC_000004.11:g.23815880del , CM000666.1:g.23815880del	GRCh37
NC_000004.10:g.23424978del	NCBI36
NG_028250.1:g.80822del
NG_028250.2:g.663720del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1227del MANE Select	ENSP00000264867.2:p.Gln409HisfsTer2
ENST00000264867.6:c.1227del	ENSP00000264867.2:p.Gln409HisfsTer2
ENST00000506055.5:c.*442del	ENSP00000423075.1:n.*442del
ENST00000509702.5:n.1267del
ENST00000613098.4:c.846del	ENSP00000481498.1:p.Gln282HisfsTer2
NM_013261.3:c.1227del	NP_037393.1:p.Gln409HisfsTer2
XM_005248130.2:c.1242del	XP_005248187.1:p.Gln414HisfsTer2
XM_005248131.3:c.1239del	XP_005248188.1:p.Gln413HisfsTer2
XM_005248132.1:c.1218del	XP_005248189.1:p.Gln406HisfsTer2
XM_005248134.3:c.1242del	XP_005248191.1:p.Gln414HisfsTer2
XM_011513764.1:c.1227del	XP_011512066.1:p.Gln409HisfsTer2
XM_011513765.1:c.1191del	XP_011512067.1:p.Gln397HisfsTer2
XM_011513766.1:c.1122del	XP_011512068.1:p.Gln374HisfsTer2
XM_011513767.1:c.1122del	XP_011512069.1:p.Gln374HisfsTer2
XM_011513768.1:c.1122del	XP_011512070.1:p.Gln374HisfsTer2
XM_011513769.1:c.1242del	XP_011512071.1:p.Gln414HisfsTer2
XM_011513770.1:c.846del	XP_011512072.1:p.Gln282HisfsTer2
XM_011513771.1:c.846del	XP_011512073.1:p.Gln282HisfsTer2
NM_001330751.1:c.1242del	NP_001317680.1:p.Gln414HisfsTer2
NM_001330752.1:c.1191del	NP_001317681.1:p.Gln397HisfsTer2
NM_001330753.1:c.846del	NP_001317682.1:p.Gln282HisfsTer2
NM_001354825.1:c.1242del	NP_001341754.1:p.Gln414HisfsTer2
NM_001354826.1:c.846del	NP_001341755.1:p.Gln282HisfsTer2
NM_001354827.1:c.1242del	NP_001341756.1:p.Gln414HisfsTer2
NM_013261.4:c.1227del	NP_037393.1:p.Gln409HisfsTer2
NR_148981.1:n.1754del
NR_148982.1:n.1827del
NR_148983.1:n.1980del
NR_148984.1:n.1378del
NR_148985.1:n.1892del
NR_148986.1:n.1897del
NR_148987.1:n.1979del
XM_005248131.5:c.1239del	XP_005248188.1:p.Gln413HisfsTer2
XM_005248134.4:c.1242del	XP_005248191.1:p.Gln414HisfsTer2
XM_011513769.2:c.1242del	XP_011512071.1:p.Gln414HisfsTer2
XM_024453878.1:c.1242del	XP_024309646.1:p.Gln414HisfsTer2
NM_013261.5:c.1227del MANE Select	NP_037393.1:p.Gln409HisfsTer2
NM_001330751.2:c.1242del	NP_001317680.1:p.Gln414HisfsTer2
NM_001330752.2:c.1191del	NP_001317681.1:p.Gln397HisfsTer2
NM_001354825.2:c.1242del	NP_001341754.1:p.Gln414HisfsTer2
NM_001354826.2:c.846del	NP_001341755.1:p.Gln282HisfsTer2
NM_001354827.2:c.1242del	NP_001341756.1:p.Gln414HisfsTer2
NR_148981.2:n.1830del
NR_148982.2:n.1903del
NR_148983.2:n.2056del
NR_148984.2:n.1348del
NR_148985.2:n.1968del
NR_148986.2:n.1973del
NR_148987.2:n.2055del
NM_001330753.2:c.846del	NP_001317682.1:p.Gln282HisfsTer2