Canonical Allele Identifier: CA16041171
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371769
ClinVar RCV Id: RCV000410891 RCV000411994
dbSNP Id: rs1057517522
MyVariant Identifiers: chr7:g.92147095del (hg19) chr7:g.92517781del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517783del , CM000669.2:g.92517783del GRCh38
NC_000007.13:g.92147097del , CM000669.1:g.92147097del GRCh37
NC_000007.12:g.91985033del NCBI36
NG_008341.1:g.15751del
NG_008341.2:g.15751del

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.734del MANE Select ENSP00000248633.4:p.Leu245TyrfsTer4
ENST00000248633.8:c.734del ENSP00000248633.4:p.Leu245TyrfsTer4
ENST00000428214.5:c.734del ENSP00000394413.1:p.Leu245TyrfsTer4
ENST00000438045.5:c.274-3814del ENSP00000410438.1:n.274-3814del
ENST00000484913.5:n.773del
NM_000466.2:c.734del NP_000457.1:p.Leu245TyrfsTer4
NM_001282677.1:c.734del NP_001269606.1:p.Leu245TyrfsTer4
NM_001282678.1:c.110del NP_001269607.1:p.Leu37TyrfsTer4
XR_242246.3:n.830del
XR_242246.5:n.781del
NM_000466.3:c.734del MANE Select NP_000457.1:p.Leu245TyrfsTer4
NM_001282677.2:c.734del NP_001269606.1:p.Leu245TyrfsTer4
NM_001282678.2:c.110del NP_001269607.1:p.Leu37TyrfsTer4
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