Canonical Allele Identifier: CA2739272221

Gene: PEX10

Linked Data

• ClinVar Variation Id: 2893573
• ClinVar RCV Id: RCV003650225

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406531_2406543del , CM000663.2:g.2406531_2406543del	GRCh38
NC_000001.10:g.2337970_2337982del , CM000663.1:g.2337970_2337982del	GRCh37
NC_000001.9:g.2327830_2327842del	NCBI36
NG_008342.1:g.11034_11046del
NG_016128.1:g.19757_19769del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.918_930del	ENSP00000288774.3:p.Pro307CysfsTer?
ENST00000447513.7:c.858_870del MANE Select	ENSP00000407922.2:p.Pro287CysfsTer?
ENST00000650293.1:c.812_824del
ENST00000288774.7:c.918_930del	ENSP00000288774.3:p.Pro307CysfsTer?
ENST00000447513.6:c.858_870del	ENSP00000407922.2:p.Pro287CysfsTer?
ENST00000507596.5:c.858_870del	ENSP00000424291.1:p.Pro287CysfsTer?
ENST00000510434.1:c.*224_*236del	ENSP00000423051.1:n.*224_*236del
NM_002617.3:c.858_870del	NP_002608.1:p.Pro287CysfsTer?
NM_153818.1:c.918_930del	NP_722540.1:p.Pro307CysfsTer?
XM_011541573.1:c.915_927del	XP_011539875.1:p.Pro306CysfsTer?
XM_011541574.1:c.483_495del	XP_011539876.1:p.Pro162CysfsTer?
XM_011541575.1:c.483_495del	XP_011539877.1:p.Pro162CysfsTer?
XR_946666.1:n.974_986del
XR_946666.2:n.923_935del
NM_001374425.1:c.915_927del	NP_001361354.1:p.Pro306CysfsTer?
NM_001374426.1:c.483_495del	NP_001361355.1:p.Pro162CysfsTer?
NM_001374427.1:c.426_438del	NP_001361356.1:p.Pro143CysfsTer?
NM_002617.4:c.858_870del MANE Select	NP_002608.1:p.Pro287CysfsTer?
NM_153818.2:c.918_930del	NP_722540.1:p.Pro307CysfsTer?
NR_164636.1:n.973_985del