Canonical Allele Identifier: CA16041165
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371739
ClinVar RCV Id: RCV000411168 RCV000412257
dbSNP Id: rs1057517497
gnomAD v4: 7-92511003-CT-C
MyVariant Identifiers: chr7:g.92140318del (hg19) chr7:g.92511004del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92511008del , CM000669.2:g.92511008del GRCh38
NC_000007.13:g.92140322del , CM000669.1:g.92140322del GRCh37
NC_000007.12:g.91978258del NCBI36
NG_008341.1:g.22528del
NG_008341.2:g.22528del

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1527del MANE Select ENSP00000248633.4:p.Glu510LysfsTer9
ENST00000248633.8:c.1527del ENSP00000248633.4:p.Glu510LysfsTer9
ENST00000422866.1:c.428del
ENST00000428214.5:c.1527del ENSP00000394413.1:p.Glu510LysfsTer9
ENST00000438045.5:c.561del ENSP00000410438.1:p.Glu188LysfsTer9
ENST00000476923.1:n.288del
ENST00000484913.5:n.1566del
NM_000466.2:c.1527del NP_000457.1:p.Glu510LysfsTer9
NM_001282677.1:c.1527del NP_001269606.1:p.Glu510LysfsTer9
NM_001282678.1:c.903del NP_001269607.1:p.Glu302LysfsTer9
XM_005250433.3:c.-140del XP_005250490.1:n.-140del
XR_242246.3:n.1623del
XM_017012319.2:c.-140del XP_016867808.1:n.-140del
XR_001744808.2:n.637del
XR_242246.5:n.1574del
NM_000466.3:c.1527del MANE Select NP_000457.1:p.Glu510LysfsTer9
NM_001282677.2:c.1527del NP_001269606.1:p.Glu510LysfsTer9
NM_001282678.2:c.903del NP_001269607.1:p.Glu302LysfsTer9
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