Canonical Allele Identifier: CA538200

Gene: PEX10

Linked Data

• dbSNP Id: rs764918823
• ExAC: 1:2340130 GGTCA / G
• gnomAD v2: 1-2340130-GGTCA-G
• gnomAD v4: 1-2408691-GGTCA-G
• MyVariant Identifiers: chr1:g.2340131_2340134del (hg19) ; chr1:g.2408692_2408695del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408693_2408696del , CM000663.2:g.2408693_2408696del	GRCh38
NC_000001.10:g.2340132_2340135del , CM000663.1:g.2340132_2340135del	GRCh37
NC_000001.9:g.2329992_2329995del	NCBI36
NG_008342.1:g.8877_8880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.357_360del	ENSP00000288774.3:p.Asp120ProfsTer?
ENST00000447513.7:c.357_360del MANE Select	ENSP00000407922.2:p.Asp120ProfsTer?
ENST00000650293.1:c.311_314del
ENST00000288774.7:c.357_360del	ENSP00000288774.3:p.Asp120ProfsTer?
ENST00000447513.6:c.357_360del	ENSP00000407922.2:p.Asp120ProfsTer?
ENST00000502666.1:c.562_565del	ENSP00000461951.1:n.562_565del
ENST00000507596.5:c.357_360del	ENSP00000424291.1:p.Asp120ProfsTer?
ENST00000508384.5:c.-76_-73del	ENSP00000464289.1:n.-76_-73del
ENST00000510434.1:c.357_360del	ENSP00000423051.1:p.Asp120ProfsTer?
ENST00000515760.1:n.491_494del
NM_002617.3:c.357_360del	NP_002608.1:p.Asp120ProfsTer?
NM_153818.1:c.357_360del	NP_722540.1:p.Asp120ProfsTer?
XM_011541573.1:c.357_360del	XP_011539875.1:p.Asp120ProfsTer?
XM_011541574.1:c.-76_-73del	XP_011539876.1:n.-76_-73del
XM_011541575.1:c.-76_-73del	XP_011539877.1:n.-76_-73del
XM_011541576.1:c.357_360del	XP_011539878.1:p.Asp120ProfsTer?
XR_946666.1:n.477_480del
XM_011541576.2:c.357_360del	XP_011539878.1:p.Asp120ProfsTer?
XR_946666.2:n.426_429del
NM_001374425.1:c.357_360del	NP_001361354.1:p.Asp120ProfsTer?
NM_001374426.1:c.-76_-73del	NP_001361355.1:n.-76_-73del
NM_001374427.1:c.-76_-73del	NP_001361356.1:n.-76_-73del
NM_002617.4:c.357_360del MANE Select	NP_002608.1:p.Asp120ProfsTer?
NM_153818.2:c.357_360del	NP_722540.1:p.Asp120ProfsTer?
NR_164636.1:n.476_479del