Canonical Allele Identifier: CA2670198127

Gene: PPARGC1A

Linked Data

• gnomAD v4: 4-23814156-GCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814157_23814159del , CM000666.2:g.23814157_23814159del	GRCh38
NC_000004.11:g.23815780_23815782del , CM000666.1:g.23815780_23815782del	GRCh37
NC_000004.10:g.23424878_23424880del	NCBI36
NG_028250.1:g.80919_80921del
NG_028250.2:g.663817_663819del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1324_1326del MANE Select	ENSP00000264867.2:p.Lys442del
ENST00000264867.6:c.1324_1326del	ENSP00000264867.2:p.Lys442del
ENST00000506055.5:c.*539_*541del	ENSP00000423075.1:n.*539_*541del
ENST00000509702.5:n.1364_1366del
ENST00000613098.4:c.943_945del	ENSP00000481498.1:p.Lys315del
NM_013261.3:c.1324_1326del	NP_037393.1:p.Lys442del
XM_005248130.2:c.1339_1341del	XP_005248187.1:p.Lys447del
XM_005248131.3:c.1336_1338del	XP_005248188.1:p.Lys446del
XM_005248132.1:c.1315_1317del	XP_005248189.1:p.Lys439del
XM_005248134.3:c.1339_1341del	XP_005248191.1:p.Lys447del
XM_011513764.1:c.1324_1326del	XP_011512066.1:p.Lys442del
XM_011513765.1:c.1288_1290del	XP_011512067.1:p.Lys430del
XM_011513766.1:c.1219_1221del	XP_011512068.1:p.Lys407del
XM_011513767.1:c.1219_1221del	XP_011512069.1:p.Lys407del
XM_011513768.1:c.1219_1221del	XP_011512070.1:p.Lys407del
XM_011513769.1:c.1339_1341del	XP_011512071.1:p.Lys447del
XM_011513770.1:c.943_945del	XP_011512072.1:p.Lys315del
XM_011513771.1:c.943_945del	XP_011512073.1:p.Lys315del
NM_001330751.1:c.1339_1341del	NP_001317680.1:p.Lys447del
NM_001330752.1:c.1288_1290del	NP_001317681.1:p.Lys430del
NM_001330753.1:c.943_945del	NP_001317682.1:p.Lys315del
NM_001354825.1:c.1339_1341del	NP_001341754.1:p.Lys447del
NM_001354826.1:c.943_945del	NP_001341755.1:p.Lys315del
NM_001354827.1:c.1339_1341del	NP_001341756.1:p.Lys447del
NM_013261.4:c.1324_1326del	NP_037393.1:p.Lys442del
NR_148981.1:n.1851_1853del
NR_148982.1:n.1924_1926del
NR_148983.1:n.2077_2079del
NR_148984.1:n.1475_1477del
NR_148985.1:n.1989_1991del
NR_148986.1:n.1994_1996del
NR_148987.1:n.2076_2078del
XM_005248131.5:c.1336_1338del	XP_005248188.1:p.Lys446del
XM_005248134.4:c.1339_1341del	XP_005248191.1:p.Lys447del
XM_011513769.2:c.1339_1341del	XP_011512071.1:p.Lys447del
XM_024453878.1:c.1339_1341del	XP_024309646.1:p.Lys447del
NM_013261.5:c.1324_1326del MANE Select	NP_037393.1:p.Lys442del
NM_001330751.2:c.1339_1341del	NP_001317680.1:p.Lys447del
NM_001330752.2:c.1288_1290del	NP_001317681.1:p.Lys430del
NM_001354825.2:c.1339_1341del	NP_001341754.1:p.Lys447del
NM_001354826.2:c.943_945del	NP_001341755.1:p.Lys315del
NM_001354827.2:c.1339_1341del	NP_001341756.1:p.Lys447del
NR_148981.2:n.1927_1929del
NR_148982.2:n.2000_2002del
NR_148983.2:n.2153_2155del
NR_148984.2:n.1445_1447del
NR_148985.2:n.2065_2067del
NR_148986.2:n.2070_2072del
NR_148987.2:n.2152_2154del
NM_001330753.2:c.943_945del	NP_001317682.1:p.Lys315del