Canonical Allele Identifier: CA2683721373
Gene: PEX1 HGNC NCBI

Linked Data

gnomAD v4: 7-92522274-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92522276del , CM000669.2:g.92522276del GRCh38
NC_000007.13:g.92151590del , CM000669.1:g.92151590del GRCh37
NC_000007.12:g.91989526del NCBI36
NG_008341.1:g.11257del
NG_008341.2:g.11257del

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.130-30del MANE Select ENSP00000248633.4:n.130-30del
ENST00000248633.8:c.130-30del ENSP00000248633.4:n.130-30del
ENST00000428214.5:c.130-30del ENSP00000394413.1:n.130-30del
ENST00000438045.5:c.130-30del ENSP00000410438.1:n.130-30del
ENST00000484913.5:n.134-30del
NM_000466.2:c.130-30del NP_000457.1:n.130-30del
NM_001282677.1:c.130-30del NP_001269606.1:n.130-30del
NM_001282678.1:c.-530-30del NP_001269607.1:n.-530-30del
XR_242246.3:n.226-30del
XR_242246.5:n.177-30del
NM_000466.3:c.130-30del MANE Select NP_000457.1:n.130-30del
NM_001282677.2:c.130-30del NP_001269606.1:n.130-30del
NM_001282678.2:c.-530-30del NP_001269607.1:n.-530-30del
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