Canonical Allele Identifier: CA16041156
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371692
dbSNP Id: rs61750412

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504770_92504771del , CM000669.2:g.92504770_92504771del GRCh38
NC_000007.13:g.92134084_92134085del , CM000669.1:g.92134084_92134085del GRCh37
NC_000007.12:g.91972020_91972021del NCBI36
NG_008341.1:g.28763_28764del
NG_008341.2:g.28763_28764del

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2034_2035del MANE Select ENSP00000248633.4:p.His678GlnfsTer3
ENST00000248633.8:c.2034_2035del ENSP00000248633.4:p.His678GlnfsTer3
ENST00000428214.5:n.1900+1479_1900+1480del ENSP00000394413.1:p.=
ENST00000438045.5:c.1068_1069del ENSP00000410438.1:p.His356GlnfsTer3
ENST00000484913.5:n.2073_2074del
ENST00000496420.5:n.1710_1711del
NM_000466.2:c.2034_2035del NP_000457.1:p.His678GlnfsTer3
NM_001282677.1:c.1900+1479_1900+1480del NP_001269606.1:p.=
NM_001282678.1:c.1410_1411del NP_001269607.1:p.His470GlnfsTer3
XM_005250433.3:c.285_286del XP_005250490.1:p.His95GlnfsTer3
XR_242246.3:n.2130_2131del
XM_017012319.2:c.285_286del XP_016867808.1:p.His95GlnfsTer3
XR_001744808.2:n.1061_1062del
XR_242246.5:n.2081_2082del
NM_000466.3:c.2034_2035del MANE Select NP_000457.1:p.His678GlnfsTer3
NM_001282677.2:c.1900+1479_1900+1480del NP_001269606.1:p.=
NM_001282678.2:c.1410_1411del NP_001269607.1:p.His470GlnfsTer3