Canonical Allele Identifier: CA236457
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 191337
ClinVar RCV Id: RCV000171530 RCV001852071
dbSNP Id: rs786205656
MyVariant Identifiers: chr7:g.92147169_92147172del (hg19) chr7:g.92517855_92517858del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517858_92517861del , CM000669.2:g.92517858_92517861del GRCh38
NC_000007.13:g.92147172_92147175del , CM000669.1:g.92147172_92147175del GRCh37
NC_000007.12:g.91985108_91985111del NCBI36
NG_008341.1:g.15674_15677del
NG_008341.2:g.15674_15677del

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.657_660del MANE Select ENSP00000248633.4:p.Ser220IlefsTer22
ENST00000248633.8:c.657_660del ENSP00000248633.4:p.Ser220IlefsTer22
ENST00000428214.5:c.657_660del ENSP00000394413.1:p.Ser220IlefsTer22
ENST00000438045.5:c.274-3891_274-3888del ENSP00000410438.1:n.274-3891_274-3888del
ENST00000484913.5:n.696_699del
NM_000466.2:c.657_660del NP_000457.1:p.Ser220IlefsTer22
NM_001282677.1:c.657_660del NP_001269606.1:p.Ser220IlefsTer22
NM_001282678.1:c.33_36del NP_001269607.1:p.Ser12IlefsTer22
XR_242246.3:n.753_756del
XR_242246.5:n.704_707del
NM_000466.3:c.657_660del MANE Select NP_000457.1:p.Ser220IlefsTer22
NM_001282677.2:c.657_660del NP_001269606.1:p.Ser220IlefsTer22
NM_001282678.2:c.33_36del NP_001269607.1:p.Ser12IlefsTer22
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