Canonical Allele Identifier: CA805555405

Gene: PPARGC1B

Linked Data

• dbSNP Id: rs1453367687
• gnomAD v3: 5-149825832-GTCA-G
• gnomAD v4: 5-149825832-GTCA-G
• MyVariant Identifiers: chr5:g.149205396_149205398del (hg19) ; chr5:g.149825833_149825835del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149825844_149825846del , CM000667.2:g.149825844_149825846del	GRCh38
NC_000005.9:g.149205407_149205409del , CM000667.1:g.149205407_149205409del	GRCh37
NC_000005.8:g.149185600_149185602del	NCBI36
NG_016747.1:g.100593_100595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309241.10:c.253-829_253-827del MANE Select	ENSP00000312649.5:n.253-829_253-827del
ENST00000309241.9:c.253-829_253-827del	ENSP00000312649.5:n.253-829_253-827del
ENST00000360453.8:c.253-829_253-827del	ENSP00000353638.4:n.253-829_253-827del
ENST00000394320.7:c.253-829_253-827del	ENSP00000377855.3:n.253-829_253-827del
ENST00000403750.5:c.178-829_178-827del	ENSP00000384403.1:n.178-829_178-827del
NM_001172698.1:c.253-829_253-827del	NP_001166169.1:n.253-829_253-827del
NM_001172699.1:c.178-829_178-827del	NP_001166170.1:n.178-829_178-827del
NM_133263.3:c.253-829_253-827del	NP_573570.3:n.253-829_253-827del
XM_005268372.3:c.190-829_190-827del	XP_005268429.1:n.190-829_190-827del
XM_011537553.1:c.253-829_253-827del	XP_011535855.1:n.253-829_253-827del
XM_011537554.1:c.190-829_190-827del	XP_011535856.1:n.190-829_190-827del
XM_011537555.1:c.253-829_253-827del	XP_011535857.1:n.253-829_253-827del
XM_011537556.1:c.-243-829_-243-827del	XP_011535858.1:n.-243-829_-243-827del
XM_011537557.1:c.253-829_253-827del	XP_011535859.1:n.253-829_253-827del
XM_005268372.4:c.190-829_190-827del	XP_005268429.1:n.190-829_190-827del
XM_011537553.2:c.253-829_253-827del	XP_011535855.1:n.253-829_253-827del
XM_011537554.2:c.190-829_190-827del	XP_011535856.1:n.190-829_190-827del
XM_011537555.2:c.253-829_253-827del	XP_011535857.1:n.253-829_253-827del
XM_011537556.2:c.-243-829_-243-827del	XP_011535858.1:n.-243-829_-243-827del
NM_133263.4:c.253-829_253-827del MANE Select	NP_573570.3:n.253-829_253-827del
NM_001172698.2:c.253-829_253-827del	NP_001166169.1:n.253-829_253-827del
NM_001172699.2:c.178-829_178-827del	NP_001166170.1:n.178-829_178-827del