Canonical Allele Identifier: CA2578938026
Gene: PEX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92506229_92506230del , CM000669.2:g.92506229_92506230del GRCh38
NC_000007.13:g.92135543_92135544del , CM000669.1:g.92135543_92135544del GRCh37
NC_000007.12:g.91973479_91973480del NCBI36
NG_008341.1:g.27304_27305del
NG_008341.2:g.27304_27305del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.1900+20_1900+21del MANE Select ENSP00000248633.4:n.1900+20_1900+21del
ENST00000248633.8:c.1900+20_1900+21del ENSP00000248633.4:n.1900+20_1900+21del
ENST00000422866.1:c.718+20_718+21del
ENST00000428214.5:c.1900+20_1900+21del ENSP00000394413.1:n.1900+20_1900+21del
ENST00000438045.5:c.934+20_934+21del ENSP00000410438.1:n.934+20_934+21del
ENST00000484913.5:n.1939+20_1939+21del
ENST00000496420.5:n.1576+20_1576+21del
NM_000466.2:c.1900+20_1900+21del NP_000457.1:n.1900+20_1900+21del
NM_001282677.1:c.1900+20_1900+21del NP_001269606.1:n.1900+20_1900+21del
NM_001282678.1:c.1276+20_1276+21del NP_001269607.1:n.1276+20_1276+21del
XM_005250433.3:c.151+20_151+21del XP_005250490.1:n.151+20_151+21del
XR_242246.3:n.1996+20_1996+21del
XM_017012319.2:c.151+20_151+21del XP_016867808.1:n.151+20_151+21del
XR_001744808.2:n.927+20_927+21del
XR_242246.5:n.1947+20_1947+21del
NM_000466.3:c.1900+20_1900+21del MANE Select NP_000457.1:n.1900+20_1900+21del
NM_001282677.2:c.1900+20_1900+21del NP_001269606.1:n.1900+20_1900+21del
NM_001282678.2:c.1276+20_1276+21del NP_001269607.1:n.1276+20_1276+21del
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