Canonical Allele Identifier: CA2670198110

Gene: PPARGC1A

Linked Data

• gnomAD v4: 4-23814066-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814067del , CM000666.2:g.23814067del	GRCh38
NC_000004.11:g.23815690del , CM000666.1:g.23815690del	GRCh37
NC_000004.10:g.23424788del	NCBI36
NG_028250.1:g.81011del
NG_028250.2:g.663909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1416del MANE Select	ENSP00000264867.2:p.Val473PhefsTer12
ENST00000264867.6:c.1416del	ENSP00000264867.2:p.Val473PhefsTer12
ENST00000506055.5:c.*631del	ENSP00000423075.1:n.*631del
ENST00000509702.5:n.1456del
ENST00000613098.4:c.1035del	ENSP00000481498.1:p.Val346PhefsTer12
NM_013261.3:c.1416del	NP_037393.1:p.Val473PhefsTer12
XM_005248130.2:c.1431del	XP_005248187.1:p.Val478PhefsTer12
XM_005248131.3:c.1428del	XP_005248188.1:p.Val477PhefsTer12
XM_005248132.1:c.1407del	XP_005248189.1:p.Val470PhefsTer12
XM_005248134.3:c.1431del	XP_005248191.1:p.Val478PhefsTer12
XM_011513764.1:c.1416del	XP_011512066.1:p.Val473PhefsTer12
XM_011513765.1:c.1380del	XP_011512067.1:p.Val461PhefsTer12
XM_011513766.1:c.1311del	XP_011512068.1:p.Val438PhefsTer12
XM_011513767.1:c.1311del	XP_011512069.1:p.Val438PhefsTer12
XM_011513768.1:c.1311del	XP_011512070.1:p.Val438PhefsTer12
XM_011513769.1:c.1431del	XP_011512071.1:p.Val478PhefsTer12
XM_011513770.1:c.1035del	XP_011512072.1:p.Val346PhefsTer12
XM_011513771.1:c.1035del	XP_011512073.1:p.Val346PhefsTer12
NM_001330751.1:c.1431del	NP_001317680.1:p.Val478PhefsTer12
NM_001330752.1:c.1380del	NP_001317681.1:p.Val461PhefsTer12
NM_001330753.1:c.1035del	NP_001317682.1:p.Val346PhefsTer12
NM_001354825.1:c.1431del	NP_001341754.1:p.Val478PhefsTer12
NM_001354826.1:c.1035del	NP_001341755.1:p.Val346PhefsTer12
NM_001354827.1:c.1431del	NP_001341756.1:p.Val478PhefsTer12
NM_013261.4:c.1416del	NP_037393.1:p.Val473PhefsTer12
NR_148981.1:n.1943del
NR_148982.1:n.2016del
NR_148983.1:n.2169del
NR_148984.1:n.1567del
NR_148985.1:n.2081del
NR_148986.1:n.2086del
NR_148987.1:n.2168del
XM_005248131.5:c.1428del	XP_005248188.1:p.Val477PhefsTer12
XM_005248134.4:c.1431del	XP_005248191.1:p.Val478PhefsTer12
XM_011513769.2:c.1431del	XP_011512071.1:p.Val478PhefsTer12
XM_024453878.1:c.1431del	XP_024309646.1:p.Val478PhefsTer12
NM_013261.5:c.1416del MANE Select	NP_037393.1:p.Val473PhefsTer12
NM_001330751.2:c.1431del	NP_001317680.1:p.Val478PhefsTer12
NM_001330752.2:c.1380del	NP_001317681.1:p.Val461PhefsTer12
NM_001354825.2:c.1431del	NP_001341754.1:p.Val478PhefsTer12
NM_001354826.2:c.1035del	NP_001341755.1:p.Val346PhefsTer12
NM_001354827.2:c.1431del	NP_001341756.1:p.Val478PhefsTer12
NR_148981.2:n.2019del
NR_148982.2:n.2092del
NR_148983.2:n.2245del
NR_148984.2:n.1537del
NR_148985.2:n.2157del
NR_148986.2:n.2162del
NR_148987.2:n.2244del
NM_001330753.2:c.1035del	NP_001317682.1:p.Val346PhefsTer12