Canonical Allele Identifier: CA4341491
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 644707
ClinVar RCV Id: RCV000798684 RCV001091384 RCV001193610 RCV001376612 RCV003472357
dbSNP Id: rs61750406
ExAC: 7:92146720 A / AT
gnomAD v2: 7-92146720-A-AT
gnomAD v3: 7-92517406-A-AT
gnomAD v4: 7-92517406-A-AT
MyVariant Identifiers: chr7:g.92146721_92146722insT (hg19) chr7:g.92146720_92146721insT (hg19) chr7:g.92517407_92517408insT (hg38) chr7:g.92517406_92517407insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517415dup , CM000669.2:g.92517415dup GRCh38
NC_000007.13:g.92146729dup , CM000669.1:g.92146729dup GRCh37
NC_000007.12:g.91984665dup NCBI36
NG_008341.1:g.16125dup
NG_008341.2:g.16125dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.1108dup MANE Select ENSP00000248633.4:p.Ile370AsnfsTer2
ENST00000248633.8:c.1108dup ENSP00000248633.4:p.Ile370AsnfsTer2
ENST00000422866.1:c.9dup
ENST00000428214.5:c.1108dup ENSP00000394413.1:p.Ile370AsnfsTer2
ENST00000438045.5:c.274-3440dup ENSP00000410438.1:n.274-3440dup
ENST00000484913.5:n.1147dup
NM_000466.2:c.1108dup NP_000457.1:p.Ile370AsnfsTer2
NM_001282677.1:c.1108dup NP_001269606.1:p.Ile370AsnfsTer2
NM_001282678.1:c.484dup NP_001269607.1:p.Ile162AsnfsTer2
XR_242246.3:n.1204dup
XM_017012319.2:c.-559dup XP_016867808.1:n.-559dup
XR_001744808.2:n.218dup
XR_242246.5:n.1155dup
NM_000466.3:c.1108dup MANE Select NP_000457.1:p.Ile370AsnfsTer2
NM_001282677.2:c.1108dup NP_001269606.1:p.Ile370AsnfsTer2
NM_001282678.2:c.484dup NP_001269607.1:p.Ile162AsnfsTer2
Search 100 bp 5'
Search 100 bp 3'