Canonical Allele Identifier: CA4341366
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs761093176

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92510921_92510924del , CM000669.2:g.92510921_92510924del GRCh38
NC_000007.13:g.92140235_92140238del , CM000669.1:g.92140235_92140238del GRCh37
NC_000007.12:g.91978171_91978174del NCBI36
NG_008341.1:g.22610_22613del
NG_008341.2:g.22610_22613del

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1587+22_1587+25del MANE Select ENSP00000248633.4:n.1587+22_1587+25del
ENST00000248633.8:c.1587+22_1587+25del ENSP00000248633.4:n.1587+22_1587+25del
ENST00000422866.1:c.488+22_488+25del
ENST00000428214.5:c.1587+22_1587+25del ENSP00000394413.1:n.1587+22_1587+25del
ENST00000438045.5:c.621+22_621+25del ENSP00000410438.1:n.621+22_621+25del
ENST00000476923.1:n.370_373del
ENST00000484913.5:n.1626+22_1626+25del
NM_000466.2:c.1587+22_1587+25del NP_000457.1:n.1587+22_1587+25del
NM_001282677.1:c.1587+22_1587+25del NP_001269606.1:n.1587+22_1587+25del
NM_001282678.1:c.963+22_963+25del NP_001269607.1:n.963+22_963+25del
XM_005250433.3:c.-80+22_-80+25del XP_005250490.1:n.-80+22_-80+25del
XR_242246.3:n.1683+22_1683+25del
XM_017012319.2:c.-80+22_-80+25del XP_016867808.1:n.-80+22_-80+25del
XR_001744808.2:n.697+22_697+25del
XR_242246.5:n.1634+22_1634+25del
NM_000466.3:c.1587+22_1587+25del MANE Select NP_000457.1:n.1587+22_1587+25del
NM_001282677.2:c.1587+22_1587+25del NP_001269606.1:n.1587+22_1587+25del
NM_001282678.2:c.963+22_963+25del NP_001269607.1:n.963+22_963+25del