Canonical Allele Identifier: CA2642720296
Gene: PEX10 HGNC NCBI

Linked Data

gnomAD v4: 1-2408399-TG-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2408404del , CM000663.2:g.2408404del GRCh38
NC_000001.10:g.2339843del , CM000663.1:g.2339843del GRCh37
NC_000001.9:g.2329703del NCBI36
NG_008342.1:g.9172del

Transcript Alleles

HGVS Amino-acid Change
ENST00000288774.8:c.600+52del ENSP00000288774.3:n.600+52del
ENST00000447513.7:c.600+52del MANE Select ENSP00000407922.2:n.600+52del
ENST00000650293.1:c.554+52del
ENST00000288774.7:c.600+52del ENSP00000288774.3:n.600+52del
ENST00000447513.6:c.600+52del ENSP00000407922.2:n.600+52del
ENST00000507596.5:c.600+52del ENSP00000424291.1:n.600+52del
ENST00000510434.1:c.596+56del ENSP00000423051.1:n.596+56del
NM_002617.3:c.600+52del NP_002608.1:n.600+52del
NM_153818.1:c.600+52del NP_722540.1:n.600+52del
XM_011541573.1:c.600+52del XP_011539875.1:n.600+52del
XM_011541574.1:c.168+52del XP_011539876.1:n.168+52del
XM_011541575.1:c.168+52del XP_011539877.1:n.168+52del
XM_011541576.1:c.596+56del XP_011539878.1:n.596+56del
XR_946666.1:n.716+56del
XM_011541576.2:c.596+56del XP_011539878.1:n.596+56del
XR_946666.2:n.665+56del
NM_001374425.1:c.600+52del NP_001361354.1:n.600+52del
NM_001374426.1:c.168+52del NP_001361355.1:n.168+52del
NM_001374427.1:c.168+52del NP_001361356.1:n.168+52del
NM_002617.4:c.600+52del MANE Select NP_002608.1:n.600+52del
NM_153818.2:c.600+52del NP_722540.1:n.600+52del
NR_164636.1:n.715+56del