Canonical Allele Identifier: CA1104476684
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs1792861580

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517685_92517696del , CM000669.2:g.92517685_92517696del GRCh38
NC_000007.13:g.92146999_92147010del , CM000669.1:g.92146999_92147010del GRCh37
NC_000007.12:g.91984935_91984946del NCBI36
NG_008341.1:g.15836_15847del
NG_008341.2:g.15836_15847del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.819_830del MANE Select ENSP00000248633.4:p.Phe273_Gln277delinsLeu
ENST00000248633.8:c.819_830del ENSP00000248633.4:p.Phe273_Gln277delinsLeu
ENST00000428214.5:c.819_830del ENSP00000394413.1:p.Phe273_Gln277delinsLeu
ENST00000438045.5:c.274-3729_274-3718del ENSP00000410438.1:n.274-3729_274-3718del
ENST00000484913.5:n.858_869del
NM_000466.2:c.819_830del NP_000457.1:p.Phe273_Gln277delinsLeu
NM_001282677.1:c.819_830del NP_001269606.1:p.Phe273_Gln277delinsLeu
NM_001282678.1:c.195_206del NP_001269607.1:p.Phe65_Gln69delinsLeu
XR_242246.3:n.915_926del
XR_242246.5:n.866_877del
NM_000466.3:c.819_830del MANE Select NP_000457.1:p.Phe273_Gln277delinsLeu
NM_001282677.2:c.819_830del NP_001269606.1:p.Phe273_Gln277delinsLeu
NM_001282678.2:c.195_206del NP_001269607.1:p.Phe65_Gln69delinsLeu