Canonical Allele Identifier: CA16041160
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371713
ClinVar RCV Id: RCV000410544 RCV000411204 RCV002230733
dbSNP Id: rs1057517478
MyVariant Identifiers: chr7:g.92134209del (hg19) chr7:g.92504895del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504896del , CM000669.2:g.92504896del GRCh38
NC_000007.13:g.92134210del , CM000669.1:g.92134210del GRCh37
NC_000007.12:g.91972146del NCBI36
NG_008341.1:g.28637del
NG_008341.2:g.28637del

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1908del MANE Select ENSP00000248633.4:p.Arg636SerfsTer9
ENST00000248633.8:c.1908del ENSP00000248633.4:p.Arg636SerfsTer9
ENST00000422866.1:c.726del
ENST00000428214.5:c.1900+1353del ENSP00000394413.1:n.1900+1353del
ENST00000438045.5:c.942del ENSP00000410438.1:p.Arg314SerfsTer9
ENST00000484913.5:n.1947del
ENST00000496420.5:n.1584del
NM_000466.2:c.1908del NP_000457.1:p.Arg636SerfsTer9
NM_001282677.1:c.1900+1353del NP_001269606.1:n.1900+1353del
NM_001282678.1:c.1284del NP_001269607.1:p.Arg428SerfsTer9
XM_005250433.3:c.159del XP_005250490.1:p.Arg53SerfsTer9
XR_242246.3:n.2004del
XM_017012319.2:c.159del XP_016867808.1:p.Arg53SerfsTer9
XR_001744808.2:n.935del
XR_242246.5:n.1955del
NM_000466.3:c.1908del MANE Select NP_000457.1:p.Arg636SerfsTer9
NM_001282677.2:c.1900+1353del NP_001269606.1:n.1900+1353del
NM_001282678.2:c.1284del NP_001269607.1:p.Arg428SerfsTer9
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