Canonical Allele Identifier: CA2578056749

Gene: PPARGC1A

Linked Data

• gnomAD v4: 4-23824220-TACAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23824230_23824233del , CM000666.2:g.23824230_23824233del	GRCh38
NC_000004.11:g.23825853_23825856del , CM000666.1:g.23825853_23825856del	GRCh37
NC_000004.10:g.23434951_23434954del	NCBI36
NG_028250.1:g.70854_70857del
NG_028250.2:g.653752_653755del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.877+56_877+59del MANE Select	ENSP00000264867.2:n.877+56_877+59del
ENST00000264867.6:c.877+56_877+59del	ENSP00000264867.2:n.877+56_877+59del
ENST00000506055.5:c.*92+56_*92+59del	ENSP00000423075.1:n.*92+56_*92+59del
ENST00000509642.5:n.970+56_970+59del
ENST00000509702.5:n.917+56_917+59del
ENST00000513205.5:c.877+56_877+59del	ENSP00000421632.1:n.877+56_877+59del
ENST00000613098.4:c.496+56_496+59del	ENSP00000481498.1:n.496+56_496+59del
ENST00000617484.4:c.865+56_865+59del	ENSP00000477921.1:n.865+56_865+59del
NM_013261.3:c.877+56_877+59del	NP_037393.1:n.877+56_877+59del
XM_005248130.2:c.892+56_892+59del	XP_005248187.1:n.892+56_892+59del
XM_005248131.3:c.889+56_889+59del	XP_005248188.1:n.889+56_889+59del
XM_005248132.1:c.868+56_868+59del	XP_005248189.1:n.868+56_868+59del
XM_005248134.3:c.892+56_892+59del	XP_005248191.1:n.892+56_892+59del
XM_011513764.1:c.877+56_877+59del	XP_011512066.1:n.877+56_877+59del
XM_011513765.1:c.841+56_841+59del	XP_011512067.1:n.841+56_841+59del
XM_011513766.1:c.772+56_772+59del	XP_011512068.1:n.772+56_772+59del
XM_011513767.1:c.772+56_772+59del	XP_011512069.1:n.772+56_772+59del
XM_011513768.1:c.772+56_772+59del	XP_011512070.1:n.772+56_772+59del
XM_011513769.1:c.892+56_892+59del	XP_011512071.1:n.892+56_892+59del
XM_011513770.1:c.496+56_496+59del	XP_011512072.1:n.496+56_496+59del
XM_011513771.1:c.496+56_496+59del	XP_011512073.1:n.496+56_496+59del
NM_001330751.1:c.892+56_892+59del	NP_001317680.1:n.892+56_892+59del
NM_001330752.1:c.841+56_841+59del	NP_001317681.1:n.841+56_841+59del
NM_001330753.1:c.496+56_496+59del	NP_001317682.1:n.496+56_496+59del
NM_001354825.1:c.892+56_892+59del	NP_001341754.1:n.892+56_892+59del
NM_001354826.1:c.496+56_496+59del	NP_001341755.1:n.496+56_496+59del
NM_001354827.1:c.892+56_892+59del	NP_001341756.1:n.892+56_892+59del
NM_013261.4:c.877+56_877+59del	NP_037393.1:n.877+56_877+59del
NR_148981.1:n.1404+56_1404+59del
NR_148982.1:n.1477+56_1477+59del
NR_148983.1:n.1630+56_1630+59del
NR_148984.1:n.1028+56_1028+59del
NR_148985.1:n.1542+56_1542+59del
NR_148986.1:n.1343+56_1343+59del
NR_148987.1:n.1425+56_1425+59del
XM_005248131.5:c.889+56_889+59del	XP_005248188.1:n.889+56_889+59del
XM_005248134.4:c.892+56_892+59del	XP_005248191.1:n.892+56_892+59del
XM_011513769.2:c.892+56_892+59del	XP_011512071.1:n.892+56_892+59del
XM_024453878.1:c.892+56_892+59del	XP_024309646.1:n.892+56_892+59del
NM_013261.5:c.877+56_877+59del MANE Select	NP_037393.1:n.877+56_877+59del
NM_001330751.2:c.892+56_892+59del	NP_001317680.1:n.892+56_892+59del
NM_001330752.2:c.841+56_841+59del	NP_001317681.1:n.841+56_841+59del
NM_001354825.2:c.892+56_892+59del	NP_001341754.1:n.892+56_892+59del
NM_001354826.2:c.496+56_496+59del	NP_001341755.1:n.496+56_496+59del
NM_001354827.2:c.892+56_892+59del	NP_001341756.1:n.892+56_892+59del
NR_148981.2:n.1480+56_1480+59del
NR_148982.2:n.1553+56_1553+59del
NR_148983.2:n.1706+56_1706+59del
NR_148984.2:n.998+56_998+59del
NR_148985.2:n.1618+56_1618+59del
NR_148986.2:n.1419+56_1419+59del
NR_148987.2:n.1501+56_1501+59del
NM_001330753.2:c.496+56_496+59del	NP_001317682.1:n.496+56_496+59del