Canonical Allele Identifier: CA2642734708
Gene: PEX10 HGNC NCBI

Linked Data

gnomAD v4: 1-2408819-TG-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2408821del , CM000663.2:g.2408821del GRCh38
NC_000001.10:g.2340260del , CM000663.1:g.2340260del GRCh37
NC_000001.9:g.2330120del NCBI36
NG_008342.1:g.8752del

Transcript Alleles

HGVS Amino-acid Change
ENST00000288774.8:c.232del ENSP00000288774.3:p.Gln78ArgfsTer19
ENST00000447513.7:c.232del MANE Select ENSP00000407922.2:p.Gln78ArgfsTer19
ENST00000650293.1:c.186del
ENST00000288774.7:c.232del ENSP00000288774.3:p.Gln78ArgfsTer19
ENST00000447513.6:c.232del ENSP00000407922.2:p.Gln78ArgfsTer19
ENST00000502666.1:c.437del ENSP00000461951.1:n.437del
ENST00000507596.5:c.232del ENSP00000424291.1:p.Gln78ArgfsTer19
ENST00000508384.5:c.-201del ENSP00000464289.1:n.-201del
ENST00000510434.1:c.232del ENSP00000423051.1:p.Gln78ArgfsTer19
ENST00000514502.1:c.*249del ENSP00000425924.1:n.*249del
ENST00000515760.1:n.366del
NM_002617.3:c.232del NP_002608.1:p.Gln78ArgfsTer19
NM_153818.1:c.232del NP_722540.1:p.Gln78ArgfsTer19
XM_011541573.1:c.232del XP_011539875.1:p.Gln78ArgfsTer19
XM_011541574.1:c.-201del XP_011539876.1:n.-201del
XM_011541575.1:c.-201del XP_011539877.1:n.-201del
XM_011541576.1:c.232del XP_011539878.1:p.Gln78ArgfsTer19
XR_946666.1:n.352del
XM_011541576.2:c.232del XP_011539878.1:p.Gln78ArgfsTer19
XR_946666.2:n.301del
NM_001374425.1:c.232del NP_001361354.1:p.Gln78ArgfsTer19
NM_001374426.1:c.-201del NP_001361355.1:n.-201del
NM_001374427.1:c.-201del NP_001361356.1:n.-201del
NM_002617.4:c.232del MANE Select NP_002608.1:p.Gln78ArgfsTer19
NM_153818.2:c.232del NP_722540.1:p.Gln78ArgfsTer19
NR_164636.1:n.351del