Canonical Allele Identifier: CA16041167
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371767
ClinVar RCV Id: RCV000409164 RCV000410303
dbSNP Id: rs1057517520
MyVariant Identifiers: chr7:g.92146674del (hg19) chr7:g.92517360del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517361del , CM000669.2:g.92517361del GRCh38
NC_000007.13:g.92146675del , CM000669.1:g.92146675del GRCh37
NC_000007.12:g.91984611del NCBI36
NG_008341.1:g.16172del
NG_008341.2:g.16172del

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1155del MANE Select ENSP00000248633.4:p.Val386Ter
ENST00000248633.8:c.1155del ENSP00000248633.4:p.Val386Ter
ENST00000422866.1:c.56del
ENST00000428214.5:c.1155del ENSP00000394413.1:p.Val386Ter
ENST00000438045.5:c.274-3393del ENSP00000410438.1:n.274-3393del
ENST00000484913.5:n.1194del
NM_000466.2:c.1155del NP_000457.1:p.Val386Ter
NM_001282677.1:c.1155del NP_001269606.1:p.Val386Ter
NM_001282678.1:c.531del NP_001269607.1:p.Val178Ter
XR_242246.3:n.1251del
XM_017012319.2:c.-512del XP_016867808.1:n.-512del
XR_001744808.2:n.265del
XR_242246.5:n.1202del
NM_000466.3:c.1155del MANE Select NP_000457.1:p.Val386Ter
NM_001282677.2:c.1155del NP_001269606.1:p.Val386Ter
NM_001282678.2:c.531del NP_001269607.1:p.Val178Ter
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