Canonical Allele Identifier: CA2670198193

Gene: PPARGC1A

Linked Data

• gnomAD v4: 4-23814246-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.23814247del , CM000666.2:g.23814247del	GRCh38
NC_000004.11:g.23815870del , CM000666.1:g.23815870del	GRCh37
NC_000004.10:g.23424968del	NCBI36
NG_028250.1:g.80831del
NG_028250.2:g.663729del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264867.7:c.1236del MANE Select	ENSP00000264867.2:p.Asn412LysfsTer23
ENST00000264867.6:c.1236del	ENSP00000264867.2:p.Asn412LysfsTer23
ENST00000506055.5:c.*451del	ENSP00000423075.1:n.*451del
ENST00000509702.5:n.1276del
ENST00000613098.4:c.855del	ENSP00000481498.1:p.Asn285LysfsTer23
NM_013261.3:c.1236del	NP_037393.1:p.Asn412LysfsTer23
XM_005248130.2:c.1251del	XP_005248187.1:p.Asn417LysfsTer23
XM_005248131.3:c.1248del	XP_005248188.1:p.Asn416LysfsTer23
XM_005248132.1:c.1227del	XP_005248189.1:p.Asn409LysfsTer23
XM_005248134.3:c.1251del	XP_005248191.1:p.Asn417LysfsTer23
XM_011513764.1:c.1236del	XP_011512066.1:p.Asn412LysfsTer23
XM_011513765.1:c.1200del	XP_011512067.1:p.Asn400LysfsTer23
XM_011513766.1:c.1131del	XP_011512068.1:p.Asn377LysfsTer23
XM_011513767.1:c.1131del	XP_011512069.1:p.Asn377LysfsTer23
XM_011513768.1:c.1131del	XP_011512070.1:p.Asn377LysfsTer23
XM_011513769.1:c.1251del	XP_011512071.1:p.Asn417LysfsTer23
XM_011513770.1:c.855del	XP_011512072.1:p.Asn285LysfsTer23
XM_011513771.1:c.855del	XP_011512073.1:p.Asn285LysfsTer23
NM_001330751.1:c.1251del	NP_001317680.1:p.Asn417LysfsTer23
NM_001330752.1:c.1200del	NP_001317681.1:p.Asn400LysfsTer23
NM_001330753.1:c.855del	NP_001317682.1:p.Asn285LysfsTer23
NM_001354825.1:c.1251del	NP_001341754.1:p.Asn417LysfsTer23
NM_001354826.1:c.855del	NP_001341755.1:p.Asn285LysfsTer23
NM_001354827.1:c.1251del	NP_001341756.1:p.Asn417LysfsTer23
NM_013261.4:c.1236del	NP_037393.1:p.Asn412LysfsTer23
NR_148981.1:n.1763del
NR_148982.1:n.1836del
NR_148983.1:n.1989del
NR_148984.1:n.1387del
NR_148985.1:n.1901del
NR_148986.1:n.1906del
NR_148987.1:n.1988del
XM_005248131.5:c.1248del	XP_005248188.1:p.Asn416LysfsTer23
XM_005248134.4:c.1251del	XP_005248191.1:p.Asn417LysfsTer23
XM_011513769.2:c.1251del	XP_011512071.1:p.Asn417LysfsTer23
XM_024453878.1:c.1251del	XP_024309646.1:p.Asn417LysfsTer23
NM_013261.5:c.1236del MANE Select	NP_037393.1:p.Asn412LysfsTer23
NM_001330751.2:c.1251del	NP_001317680.1:p.Asn417LysfsTer23
NM_001330752.2:c.1200del	NP_001317681.1:p.Asn400LysfsTer23
NM_001354825.2:c.1251del	NP_001341754.1:p.Asn417LysfsTer23
NM_001354826.2:c.855del	NP_001341755.1:p.Asn285LysfsTer23
NM_001354827.2:c.1251del	NP_001341756.1:p.Asn417LysfsTer23
NR_148981.2:n.1839del
NR_148982.2:n.1912del
NR_148983.2:n.2065del
NR_148984.2:n.1357del
NR_148985.2:n.1977del
NR_148986.2:n.1982del
NR_148987.2:n.2064del
NM_001330753.2:c.855del	NP_001317682.1:p.Asn285LysfsTer23