Canonical Allele Identifier: CA538203

Gene: PEX10

Linked Data

• dbSNP Id: rs762506636
• ExAC: 1:2340141 AGCTC / A
• gnomAD v2: 1-2340141-AGCTC-A
• gnomAD v4: 1-2408702-AGCTC-A
• MyVariant Identifiers: chr1:g.2340142_2340145del (hg19) ; chr1:g.2408703_2408706del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408703_2408706del , CM000663.2:g.2408703_2408706del	GRCh38
NC_000001.10:g.2340142_2340145del , CM000663.1:g.2340142_2340145del	GRCh37
NC_000001.9:g.2330002_2330005del	NCBI36
NG_008342.1:g.8866_8869del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.346_349del	ENSP00000288774.3:p.Glu116CysfsTer?
ENST00000447513.7:c.346_349del MANE Select	ENSP00000407922.2:p.Glu116CysfsTer?
ENST00000650293.1:c.300_303del
ENST00000288774.7:c.346_349del	ENSP00000288774.3:p.Glu116CysfsTer?
ENST00000447513.6:c.346_349del	ENSP00000407922.2:p.Glu116CysfsTer?
ENST00000502666.1:c.551_554del	ENSP00000461951.1:n.551_554del
ENST00000507596.5:c.346_349del	ENSP00000424291.1:p.Glu116CysfsTer?
ENST00000508384.5:c.-87_-84del	ENSP00000464289.1:n.-87_-84del
ENST00000510434.1:c.346_349del	ENSP00000423051.1:p.Glu116CysfsTer?
ENST00000515760.1:n.480_483del
NM_002617.3:c.346_349del	NP_002608.1:p.Glu116CysfsTer?
NM_153818.1:c.346_349del	NP_722540.1:p.Glu116CysfsTer?
XM_011541573.1:c.346_349del	XP_011539875.1:p.Glu116CysfsTer?
XM_011541574.1:c.-87_-84del	XP_011539876.1:n.-87_-84del
XM_011541575.1:c.-87_-84del	XP_011539877.1:n.-87_-84del
XM_011541576.1:c.346_349del	XP_011539878.1:p.Glu116CysfsTer?
XR_946666.1:n.466_469del
XM_011541576.2:c.346_349del	XP_011539878.1:p.Glu116CysfsTer?
XR_946666.2:n.415_418del
NM_001374425.1:c.346_349del	NP_001361354.1:p.Glu116CysfsTer?
NM_001374426.1:c.-87_-84del	NP_001361355.1:n.-87_-84del
NM_001374427.1:c.-87_-84del	NP_001361356.1:n.-87_-84del
NM_002617.4:c.346_349del MANE Select	NP_002608.1:p.Glu116CysfsTer?
NM_153818.2:c.346_349del	NP_722540.1:p.Glu116CysfsTer?
NR_164636.1:n.465_468del