Canonical Allele Identifier: CA793191343

Gene: PPARGC1A

Linked Data

• dbSNP Id: rs1362479123
• MyVariant Identifiers: chr4:g.23874821_23874826del (hg19) ; chr4:g.23873198_23873203del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23873203_23873208del , CM000666.2:g.23873203_23873208del	GRCh38
NC_000004.11:g.23874826_23874831del , CM000666.1:g.23874826_23874831del	GRCh37
NC_000004.10:g.23483924_23483929del	NCBI36
NG_028250.1:g.21875_21880del
NG_028250.2:g.604773_604778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.234+11549_234+11554del MANE Select	ENSP00000264867.2:n.234+11549_234+11554del
ENST00000264867.6:c.234+11549_234+11554del	ENSP00000264867.2:n.234+11549_234+11554del
ENST00000506055.5:c.234+11549_234+11554del	ENSP00000423075.1:n.234+11549_234+11554del
ENST00000507342.5:n.314+11549_314+11554del
ENST00000508380.1:n.154+8755_154+8760del
ENST00000509642.5:n.327+4511_327+4516del
ENST00000509702.5:n.191+8718_191+8723del
ENST00000512169.1:n.327+4511_327+4516del
ENST00000513205.5:c.234+11549_234+11554del	ENSP00000421632.1:n.234+11549_234+11554del
ENST00000515534.5:n.307-6957_307-6952del
ENST00000612355.1:c.222+11549_222+11554del	ENSP00000479729.1:n.222+11549_222+11554del
ENST00000613098.4:c.-148+7526_-148+7531del	ENSP00000481498.1:n.-148+7526_-148+7531del
ENST00000617484.4:c.222+11549_222+11554del	ENSP00000477921.1:n.222+11549_222+11554del
NM_013261.3:c.234+11549_234+11554del	NP_037393.1:n.234+11549_234+11554del
XM_005248130.2:c.249+11549_249+11554del	XP_005248187.1:n.249+11549_249+11554del
XM_005248131.3:c.246+11549_246+11554del	XP_005248188.1:n.246+11549_246+11554del
XM_005248132.1:c.225+11549_225+11554del	XP_005248189.1:n.225+11549_225+11554del
XM_005248134.3:c.249+11549_249+11554del	XP_005248191.1:n.249+11549_249+11554del
XM_011513764.1:c.234+11549_234+11554del	XP_011512066.1:n.234+11549_234+11554del
XM_011513765.1:c.198+11549_198+11554del	XP_011512067.1:n.198+11549_198+11554del
XM_011513766.1:c.129+4511_129+4516del	XP_011512068.1:n.129+4511_129+4516del
XM_011513767.1:c.129+4511_129+4516del	XP_011512069.1:n.129+4511_129+4516del
XM_011513768.1:c.129+4511_129+4516del	XP_011512070.1:n.129+4511_129+4516del
XM_011513769.1:c.249+11549_249+11554del	XP_011512071.1:n.249+11549_249+11554del
XM_011513770.1:c.-148+7526_-148+7531del	XP_011512072.1:n.-148+7526_-148+7531del
XM_011513771.1:c.-148+8755_-148+8760del	XP_011512073.1:n.-148+8755_-148+8760del
NM_001330751.1:c.249+11549_249+11554del	NP_001317680.1:n.249+11549_249+11554del
NM_001330752.1:c.198+11549_198+11554del	NP_001317681.1:n.198+11549_198+11554del
NM_001330753.1:c.-148+7526_-148+7531del	NP_001317682.1:n.-148+7526_-148+7531del
NM_001354825.1:c.249+11549_249+11554del	NP_001341754.1:n.249+11549_249+11554del
NM_001354826.1:c.-148+11108_-148+11113del	NP_001341755.1:n.-148+11108_-148+11113del
NM_001354827.1:c.249+11549_249+11554del	NP_001341756.1:n.249+11549_249+11554del
NM_013261.4:c.234+11549_234+11554del	NP_037393.1:n.234+11549_234+11554del
NR_148981.1:n.700+11549_700+11554del
NR_148982.1:n.803+11549_803+11554del
NR_148983.1:n.956+4511_956+4516del
NR_148984.1:n.354+11549_354+11554del
NR_148985.1:n.868+11549_868+11554del
NR_148986.1:n.700+11549_700+11554del
NR_148987.1:n.700+11549_700+11554del
XM_005248131.5:c.246+11549_246+11554del	XP_005248188.1:n.246+11549_246+11554del
XM_005248134.4:c.249+11549_249+11554del	XP_005248191.1:n.249+11549_249+11554del
XM_011513769.2:c.249+11549_249+11554del	XP_011512071.1:n.249+11549_249+11554del
XM_024453878.1:c.249+11549_249+11554del	XP_024309646.1:n.249+11549_249+11554del
NM_013261.5:c.234+11549_234+11554del MANE Select	NP_037393.1:n.234+11549_234+11554del
NM_001330751.2:c.249+11549_249+11554del	NP_001317680.1:n.249+11549_249+11554del
NM_001330752.2:c.198+11549_198+11554del	NP_001317681.1:n.198+11549_198+11554del
NM_001354825.2:c.249+11549_249+11554del	NP_001341754.1:n.249+11549_249+11554del
NM_001354826.2:c.-148+11108_-148+11113del	NP_001341755.1:n.-148+11108_-148+11113del
NM_001354827.2:c.249+11549_249+11554del	NP_001341756.1:n.249+11549_249+11554del
NR_148981.2:n.776+11549_776+11554del
NR_148982.2:n.879+11549_879+11554del
NR_148983.2:n.1032+4511_1032+4516del
NR_148984.2:n.324+11549_324+11554del
NR_148985.2:n.944+11549_944+11554del
NR_148986.2:n.776+11549_776+11554del
NR_148987.2:n.776+11549_776+11554del
NM_001330753.2:c.-148+7526_-148+7531del	NP_001317682.1:n.-148+7526_-148+7531del