Canonical Allele Identifier: CA1060212003

Gene: PPARGC1A

Linked Data

• dbSNP Id: rs1723473584
• gnomAD v3: 4-23824074-CTAAGTT-C
• gnomAD v4: 4-23824074-CTAAGTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23824076_23824081del , CM000666.2:g.23824076_23824081del	GRCh38
NC_000004.11:g.23825699_23825704del , CM000666.1:g.23825699_23825704del	GRCh37
NC_000004.10:g.23434797_23434802del	NCBI36
NG_028250.1:g.70998_71003del
NG_028250.2:g.653896_653901del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.877+200_877+205del MANE Select	ENSP00000264867.2:n.877+200_877+205del
ENST00000264867.6:c.877+200_877+205del	ENSP00000264867.2:n.877+200_877+205del
ENST00000506055.5:c.*92+200_*92+205del	ENSP00000423075.1:n.*92+200_*92+205del
ENST00000509642.5:n.970+200_970+205del
ENST00000509702.5:n.917+200_917+205del
ENST00000513205.5:c.877+200_877+205del	ENSP00000421632.1:n.877+200_877+205del
ENST00000613098.4:c.496+200_496+205del	ENSP00000481498.1:n.496+200_496+205del
ENST00000617484.4:c.865+200_865+205del	ENSP00000477921.1:n.865+200_865+205del
NM_013261.3:c.877+200_877+205del	NP_037393.1:n.877+200_877+205del
XM_005248130.2:c.892+200_892+205del	XP_005248187.1:n.892+200_892+205del
XM_005248131.3:c.889+200_889+205del	XP_005248188.1:n.889+200_889+205del
XM_005248132.1:c.868+200_868+205del	XP_005248189.1:n.868+200_868+205del
XM_005248134.3:c.892+200_892+205del	XP_005248191.1:n.892+200_892+205del
XM_011513764.1:c.877+200_877+205del	XP_011512066.1:n.877+200_877+205del
XM_011513765.1:c.841+200_841+205del	XP_011512067.1:n.841+200_841+205del
XM_011513766.1:c.772+200_772+205del	XP_011512068.1:n.772+200_772+205del
XM_011513767.1:c.772+200_772+205del	XP_011512069.1:n.772+200_772+205del
XM_011513768.1:c.772+200_772+205del	XP_011512070.1:n.772+200_772+205del
XM_011513769.1:c.892+200_892+205del	XP_011512071.1:n.892+200_892+205del
XM_011513770.1:c.496+200_496+205del	XP_011512072.1:n.496+200_496+205del
XM_011513771.1:c.496+200_496+205del	XP_011512073.1:n.496+200_496+205del
NM_001330751.1:c.892+200_892+205del	NP_001317680.1:n.892+200_892+205del
NM_001330752.1:c.841+200_841+205del	NP_001317681.1:n.841+200_841+205del
NM_001330753.1:c.496+200_496+205del	NP_001317682.1:n.496+200_496+205del
NM_001354825.1:c.892+200_892+205del	NP_001341754.1:n.892+200_892+205del
NM_001354826.1:c.496+200_496+205del	NP_001341755.1:n.496+200_496+205del
NM_001354827.1:c.892+200_892+205del	NP_001341756.1:n.892+200_892+205del
NM_013261.4:c.877+200_877+205del	NP_037393.1:n.877+200_877+205del
NR_148981.1:n.1404+200_1404+205del
NR_148982.1:n.1477+200_1477+205del
NR_148983.1:n.1630+200_1630+205del
NR_148984.1:n.1028+200_1028+205del
NR_148985.1:n.1542+200_1542+205del
NR_148986.1:n.1343+200_1343+205del
NR_148987.1:n.1425+200_1425+205del
XM_005248131.5:c.889+200_889+205del	XP_005248188.1:n.889+200_889+205del
XM_005248134.4:c.892+200_892+205del	XP_005248191.1:n.892+200_892+205del
XM_011513769.2:c.892+200_892+205del	XP_011512071.1:n.892+200_892+205del
XM_024453878.1:c.892+200_892+205del	XP_024309646.1:n.892+200_892+205del
NM_013261.5:c.877+200_877+205del MANE Select	NP_037393.1:n.877+200_877+205del
NM_001330751.2:c.892+200_892+205del	NP_001317680.1:n.892+200_892+205del
NM_001330752.2:c.841+200_841+205del	NP_001317681.1:n.841+200_841+205del
NM_001354825.2:c.892+200_892+205del	NP_001341754.1:n.892+200_892+205del
NM_001354826.2:c.496+200_496+205del	NP_001341755.1:n.496+200_496+205del
NM_001354827.2:c.892+200_892+205del	NP_001341756.1:n.892+200_892+205del
NR_148981.2:n.1480+200_1480+205del
NR_148982.2:n.1553+200_1553+205del
NR_148983.2:n.1706+200_1706+205del
NR_148984.2:n.998+200_998+205del
NR_148985.2:n.1618+200_1618+205del
NR_148986.2:n.1419+200_1419+205del
NR_148987.2:n.1501+200_1501+205del
NM_001330753.2:c.496+200_496+205del	NP_001317682.1:n.496+200_496+205del