Canonical Allele Identifier: CA913189282

Gene: PEX10

Linked Data

• ClinVar Variation Id: 631594
• ClinVar RCV Id: RCV000778225 ; RCV001382724
• dbSNP Id: rs1557910202
• gnomAD v4: 1-2408500-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408501del , CM000663.2:g.2408501del	GRCh38
NC_000001.10:g.2339940del , CM000663.1:g.2339940del	GRCh37
NC_000001.9:g.2329800del	NCBI36
NG_008342.1:g.9071del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.551del	ENSP00000288774.3:p.Ile184ThrfsTer20
ENST00000447513.7:c.551del MANE Select	ENSP00000407922.2:p.Ile184ThrfsTer28
ENST00000650293.1:c.505del
ENST00000288774.7:c.551del	ENSP00000288774.3:p.Ile184ThrfsTer20
ENST00000447513.6:c.551del	ENSP00000407922.2:p.Ile184ThrfsTer28
ENST00000507596.5:c.551del	ENSP00000424291.1:p.Ile184ThrfsTer28
ENST00000510434.1:c.551del	ENSP00000423051.1:p.Ile184ThrfsTer?
NM_002617.3:c.551del	NP_002608.1:p.Ile184ThrfsTer28
NM_153818.1:c.551del	NP_722540.1:p.Ile184ThrfsTer20
XM_011541573.1:c.551del	XP_011539875.1:p.Ile184ThrfsTer19
XM_011541574.1:c.119del	XP_011539876.1:p.Ile40ThrfsTer19
XM_011541575.1:c.119del	XP_011539877.1:p.Ile40ThrfsTer19
XM_011541576.1:c.551del	XP_011539878.1:p.Ile184ThrfsTer?
XR_946666.1:n.671del
XM_011541576.2:c.551del	XP_011539878.1:p.Ile184ThrfsTer?
XR_946666.2:n.620del
NM_001374425.1:c.551del	NP_001361354.1:p.Ile184ThrfsTer19
NM_001374426.1:c.119del	NP_001361355.1:p.Ile40ThrfsTer19
NM_001374427.1:c.119del	NP_001361356.1:p.Ile40ThrfsTer28
NM_002617.4:c.551del MANE Select	NP_002608.1:p.Ile184ThrfsTer28
NM_153818.2:c.551del	NP_722540.1:p.Ile184ThrfsTer20
NR_164636.1:n.670del