Canonical Allele Identifier: CA2670198108

Gene: PPARGC1A

Linked Data

• gnomAD v4: 4-23814060-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814065del , CM000666.2:g.23814065del	GRCh38
NC_000004.11:g.23815688del , CM000666.1:g.23815688del	GRCh37
NC_000004.10:g.23424786del	NCBI36
NG_028250.1:g.81017del
NG_028250.2:g.663915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1422del MANE Select	ENSP00000264867.2:p.Phe474LeufsTer11
ENST00000264867.6:c.1422del	ENSP00000264867.2:p.Phe474LeufsTer11
ENST00000506055.5:c.*637del	ENSP00000423075.1:n.*637del
ENST00000509702.5:n.1462del
ENST00000613098.4:c.1041del	ENSP00000481498.1:p.Phe347LeufsTer11
NM_013261.3:c.1422del	NP_037393.1:p.Phe474LeufsTer11
XM_005248130.2:c.1437del	XP_005248187.1:p.Phe479LeufsTer11
XM_005248131.3:c.1434del	XP_005248188.1:p.Phe478LeufsTer11
XM_005248132.1:c.1413del	XP_005248189.1:p.Phe471LeufsTer11
XM_005248134.3:c.1437del	XP_005248191.1:p.Phe479LeufsTer11
XM_011513764.1:c.1422del	XP_011512066.1:p.Phe474LeufsTer11
XM_011513765.1:c.1386del	XP_011512067.1:p.Phe462LeufsTer11
XM_011513766.1:c.1317del	XP_011512068.1:p.Phe439LeufsTer11
XM_011513767.1:c.1317del	XP_011512069.1:p.Phe439LeufsTer11
XM_011513768.1:c.1317del	XP_011512070.1:p.Phe439LeufsTer11
XM_011513769.1:c.1437del	XP_011512071.1:p.Phe479LeufsTer11
XM_011513770.1:c.1041del	XP_011512072.1:p.Phe347LeufsTer11
XM_011513771.1:c.1041del	XP_011512073.1:p.Phe347LeufsTer11
NM_001330751.1:c.1437del	NP_001317680.1:p.Phe479LeufsTer11
NM_001330752.1:c.1386del	NP_001317681.1:p.Phe462LeufsTer11
NM_001330753.1:c.1041del	NP_001317682.1:p.Phe347LeufsTer11
NM_001354825.1:c.1437del	NP_001341754.1:p.Phe479LeufsTer11
NM_001354826.1:c.1041del	NP_001341755.1:p.Phe347LeufsTer11
NM_001354827.1:c.1437del	NP_001341756.1:p.Phe479LeufsTer11
NM_013261.4:c.1422del	NP_037393.1:p.Phe474LeufsTer11
NR_148981.1:n.1949del
NR_148982.1:n.2022del
NR_148983.1:n.2175del
NR_148984.1:n.1573del
NR_148985.1:n.2087del
NR_148986.1:n.2092del
NR_148987.1:n.2174del
XM_005248131.5:c.1434del	XP_005248188.1:p.Phe478LeufsTer11
XM_005248134.4:c.1437del	XP_005248191.1:p.Phe479LeufsTer11
XM_011513769.2:c.1437del	XP_011512071.1:p.Phe479LeufsTer11
XM_024453878.1:c.1437del	XP_024309646.1:p.Phe479LeufsTer11
NM_013261.5:c.1422del MANE Select	NP_037393.1:p.Phe474LeufsTer11
NM_001330751.2:c.1437del	NP_001317680.1:p.Phe479LeufsTer11
NM_001330752.2:c.1386del	NP_001317681.1:p.Phe462LeufsTer11
NM_001354825.2:c.1437del	NP_001341754.1:p.Phe479LeufsTer11
NM_001354826.2:c.1041del	NP_001341755.1:p.Phe347LeufsTer11
NM_001354827.2:c.1437del	NP_001341756.1:p.Phe479LeufsTer11
NR_148981.2:n.2025del
NR_148982.2:n.2098del
NR_148983.2:n.2251del
NR_148984.2:n.1543del
NR_148985.2:n.2163del
NR_148986.2:n.2168del
NR_148987.2:n.2250del
NM_001330753.2:c.1041del	NP_001317682.1:p.Phe347LeufsTer11