Canonical Allele Identifier: CA2670198124

Gene: PPARGC1A

Linked Data

• gnomAD v4: 4-23814122-TGGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814124_23814126del , CM000666.2:g.23814124_23814126del	GRCh38
NC_000004.11:g.23815747_23815749del , CM000666.1:g.23815747_23815749del	GRCh37
NC_000004.10:g.23424845_23424847del	NCBI36
NG_028250.1:g.80953_80955del
NG_028250.2:g.663851_663853del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1358_1360del MANE Select	ENSP00000264867.2:p.Leu453del
ENST00000264867.6:c.1358_1360del	ENSP00000264867.2:p.Leu453del
ENST00000506055.5:c.*573_*575del	ENSP00000423075.1:n.*573_*575del
ENST00000509702.5:n.1398_1400del
ENST00000613098.4:c.977_979del	ENSP00000481498.1:p.Leu326del
NM_013261.3:c.1358_1360del	NP_037393.1:p.Leu453del
XM_005248130.2:c.1373_1375del	XP_005248187.1:p.Leu458del
XM_005248131.3:c.1370_1372del	XP_005248188.1:p.Leu457del
XM_005248132.1:c.1349_1351del	XP_005248189.1:p.Leu450del
XM_005248134.3:c.1373_1375del	XP_005248191.1:p.Leu458del
XM_011513764.1:c.1358_1360del	XP_011512066.1:p.Leu453del
XM_011513765.1:c.1322_1324del	XP_011512067.1:p.Leu441del
XM_011513766.1:c.1253_1255del	XP_011512068.1:p.Leu418del
XM_011513767.1:c.1253_1255del	XP_011512069.1:p.Leu418del
XM_011513768.1:c.1253_1255del	XP_011512070.1:p.Leu418del
XM_011513769.1:c.1373_1375del	XP_011512071.1:p.Leu458del
XM_011513770.1:c.977_979del	XP_011512072.1:p.Leu326del
XM_011513771.1:c.977_979del	XP_011512073.1:p.Leu326del
NM_001330751.1:c.1373_1375del	NP_001317680.1:p.Leu458del
NM_001330752.1:c.1322_1324del	NP_001317681.1:p.Leu441del
NM_001330753.1:c.977_979del	NP_001317682.1:p.Leu326del
NM_001354825.1:c.1373_1375del	NP_001341754.1:p.Leu458del
NM_001354826.1:c.977_979del	NP_001341755.1:p.Leu326del
NM_001354827.1:c.1373_1375del	NP_001341756.1:p.Leu458del
NM_013261.4:c.1358_1360del	NP_037393.1:p.Leu453del
NR_148981.1:n.1885_1887del
NR_148982.1:n.1958_1960del
NR_148983.1:n.2111_2113del
NR_148984.1:n.1509_1511del
NR_148985.1:n.2023_2025del
NR_148986.1:n.2028_2030del
NR_148987.1:n.2110_2112del
XM_005248131.5:c.1370_1372del	XP_005248188.1:p.Leu457del
XM_005248134.4:c.1373_1375del	XP_005248191.1:p.Leu458del
XM_011513769.2:c.1373_1375del	XP_011512071.1:p.Leu458del
XM_024453878.1:c.1373_1375del	XP_024309646.1:p.Leu458del
NM_013261.5:c.1358_1360del MANE Select	NP_037393.1:p.Leu453del
NM_001330751.2:c.1373_1375del	NP_001317680.1:p.Leu458del
NM_001330752.2:c.1322_1324del	NP_001317681.1:p.Leu441del
NM_001354825.2:c.1373_1375del	NP_001341754.1:p.Leu458del
NM_001354826.2:c.977_979del	NP_001341755.1:p.Leu326del
NM_001354827.2:c.1373_1375del	NP_001341756.1:p.Leu458del
NR_148981.2:n.1961_1963del
NR_148982.2:n.2034_2036del
NR_148983.2:n.2187_2189del
NR_148984.2:n.1479_1481del
NR_148985.2:n.2099_2101del
NR_148986.2:n.2104_2106del
NR_148987.2:n.2186_2188del
NM_001330753.2:c.977_979del	NP_001317682.1:p.Leu326del