Canonical Allele Identifier: CA1082838479

Gene: PPARGC1B

Linked Data

• dbSNP Id: rs1758367429
• gnomAD v3: 5-149823059-CCTTCCATTTCT-C
• gnomAD v4: 5-149823059-CCTTCCATTTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149823071_149823081del , CM000667.2:g.149823071_149823081del	GRCh38
NC_000005.9:g.149202634_149202644del , CM000667.1:g.149202634_149202644del	GRCh37
NC_000005.8:g.149182827_149182837del	NCBI36
NG_016747.1:g.97820_97830del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309241.10:c.252+2465_252+2475del MANE Select	ENSP00000312649.5:n.252+2465_252+2475del
ENST00000309241.9:c.252+2465_252+2475del	ENSP00000312649.5:n.252+2465_252+2475del
ENST00000360453.8:c.252+2465_252+2475del	ENSP00000353638.4:n.252+2465_252+2475del
ENST00000394320.7:c.252+2465_252+2475del	ENSP00000377855.3:n.252+2465_252+2475del
ENST00000403750.5:c.177+2465_177+2475del	ENSP00000384403.1:n.177+2465_177+2475del
NM_001172698.1:c.252+2465_252+2475del	NP_001166169.1:n.252+2465_252+2475del
NM_001172699.1:c.177+2465_177+2475del	NP_001166170.1:n.177+2465_177+2475del
NM_133263.3:c.252+2465_252+2475del	NP_573570.3:n.252+2465_252+2475del
XM_005268372.3:c.189+2465_189+2475del	XP_005268429.1:n.189+2465_189+2475del
XM_011537553.1:c.252+2465_252+2475del	XP_011535855.1:n.252+2465_252+2475del
XM_011537554.1:c.189+2465_189+2475del	XP_011535856.1:n.189+2465_189+2475del
XM_011537555.1:c.252+2465_252+2475del	XP_011535857.1:n.252+2465_252+2475del
XM_011537556.1:c.-244+2465_-244+2475del	XP_011535858.1:n.-244+2465_-244+2475del
XM_011537557.1:c.252+2465_252+2475del	XP_011535859.1:n.252+2465_252+2475del
XM_005268372.4:c.189+2465_189+2475del	XP_005268429.1:n.189+2465_189+2475del
XM_011537553.2:c.252+2465_252+2475del	XP_011535855.1:n.252+2465_252+2475del
XM_011537554.2:c.189+2465_189+2475del	XP_011535856.1:n.189+2465_189+2475del
XM_011537555.2:c.252+2465_252+2475del	XP_011535857.1:n.252+2465_252+2475del
XM_011537556.2:c.-244+2465_-244+2475del	XP_011535858.1:n.-244+2465_-244+2475del
NM_133263.4:c.252+2465_252+2475del MANE Select	NP_573570.3:n.252+2465_252+2475del
NM_001172698.2:c.252+2465_252+2475del	NP_001166169.1:n.252+2465_252+2475del
NM_001172699.2:c.177+2465_177+2475del	NP_001166170.1:n.177+2465_177+2475del