Canonical Allele Identifier: CA521014078

Gene: PEX10

Linked Data

• ClinVar Variation Id: 1705110
• ClinVar RCV Id: RCV002283435 ; RCV003475327
• dbSNP Id: rs1557910161
• gnomAD v2: 1-2339903-CG-C
• gnomAD v4: 1-2408464-CG-C
• MyVariant Identifiers: chr1:g.2339904del (hg19) ; chr1:g.2408465del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408465del , CM000663.2:g.2408465del	GRCh38
NC_000001.10:g.2339904del , CM000663.1:g.2339904del	GRCh37
NC_000001.9:g.2329764del	NCBI36
NG_008342.1:g.9107del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.587del	ENSP00000288774.3:p.Thr196ArgfsTer8
ENST00000447513.7:c.587del MANE Select	ENSP00000407922.2:p.Thr196ArgfsTer16
ENST00000650293.1:c.541del
ENST00000288774.7:c.587del	ENSP00000288774.3:p.Thr196ArgfsTer8
ENST00000447513.6:c.587del	ENSP00000407922.2:p.Thr196ArgfsTer16
ENST00000507596.5:c.587del	ENSP00000424291.1:p.Thr196ArgfsTer16
ENST00000510434.1:c.587del	ENSP00000423051.1:p.Thr196ArgfsTer19
NM_002617.3:c.587del	NP_002608.1:p.Thr196ArgfsTer16
NM_153818.1:c.587del	NP_722540.1:p.Thr196ArgfsTer8
XM_011541573.1:c.587del	XP_011539875.1:p.Thr196ArgfsTer7
XM_011541574.1:c.155del	XP_011539876.1:p.Thr52ArgfsTer7
XM_011541575.1:c.155del	XP_011539877.1:p.Thr52ArgfsTer7
XM_011541576.1:c.587del	XP_011539878.1:p.Thr196ArgfsTer?
XR_946666.1:n.707del
XM_011541576.2:c.587del	XP_011539878.1:p.Thr196ArgfsTer?
XR_946666.2:n.656del
NM_001374425.1:c.587del	NP_001361354.1:p.Thr196ArgfsTer7
NM_001374426.1:c.155del	NP_001361355.1:p.Thr52ArgfsTer7
NM_001374427.1:c.155del	NP_001361356.1:p.Thr52ArgfsTer16
NM_002617.4:c.587del MANE Select	NP_002608.1:p.Thr196ArgfsTer16
NM_153818.2:c.587del	NP_722540.1:p.Thr196ArgfsTer8
NR_164636.1:n.706del