Canonical Allele Identifier: CA213121
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7519
ClinVar RCV Id: RCV000007953 RCV000078918 RCV000201307 RCV000500705 RCV000850579 RCV000853332 RCV001004324 RCV001073754 RCV001376645 RCV002512885
dbSNP Id: rs61750415
ExAC: 7:92132483 T / TA
gnomAD v2: 7-92132483-T-TA
gnomAD v3: 7-92503169-T-TA
gnomAD v4: 7-92503169-T-TA
MyVariant Identifiers: chr7:g.92132484dup (hg19) chr7:g.92132484dupA (hg19) chr7:g.92132483_92132484insA (hg19) chr7:g.92503170dupA (hg38) chr7:g.92503169_92503170insA (hg38)
PubMed: PMID:1301993 PMID:2063923 PMID:9398847 PMID:10447258 PMID:12402331 PMID:15098231 PMID:16141001 PMID:17055079 PMID:20952722 PMID:21031596 PMID:23757202 PMID:26387595
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92503172dup , CM000669.2:g.92503172dup GRCh38
NC_000007.13:g.92132486dup , CM000669.1:g.92132486dup GRCh37
NC_000007.12:g.91970422dup NCBI36
NG_008341.1:g.30362dup
NG_008341.2:g.30362dup

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2097dup MANE Select ENSP00000248633.4:p.Ile700TyrfsTer?
ENST00000248633.8:c.2097dup ENSP00000248633.4:p.Ile700TyrfsTer?
ENST00000428214.5:c.1926dup ENSP00000394413.1:p.Ile643TyrfsTer?
ENST00000438045.5:c.1131dup ENSP00000410438.1:p.Ile378TyrfsTer?
ENST00000484913.5:n.2136dup
ENST00000496420.5:n.1773dup
NM_000466.2:c.2097dup NP_000457.1:p.Ile700TyrfsTer?
NM_001282677.1:c.1926dup NP_001269606.1:p.Ile643TyrfsTer?
NM_001282678.1:c.1473dup NP_001269607.1:p.Ile492TyrfsTer?
XM_005250433.3:c.348dup XP_005250490.1:p.Ile117TyrfsTer?
XR_242246.3:n.2193dup
XM_017012319.2:c.348dup XP_016867808.1:p.Ile117TyrfsTer?
XR_001744808.2:n.1124dup
XR_242246.5:n.2144dup
NM_000466.3:c.2097dup MANE Select NP_000457.1:p.Ile700TyrfsTer?
NM_001282677.2:c.1926dup NP_001269606.1:p.Ile643TyrfsTer?
NM_001282678.2:c.1473dup NP_001269607.1:p.Ile492TyrfsTer?
Search 100 bp 5'
Search 100 bp 3'