Canonical Allele Identifier: CA16041150
Gene: PEX1 HGNC NCBI
GATAD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371720
ClinVar RCV Id: RCV000409714 RCV000410777
dbSNP Id: rs1057517484
gnomAD v4: 7-92494614-C-CT
MyVariant Identifiers: chr7:g.92123929dupT (hg19) chr7:g.92123928_92123929insT (hg19) chr7:g.92494615dupT (hg38) chr7:g.92494614_92494615insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494617dup , CM000669.2:g.92494617dup GRCh38
NC_000007.13:g.92123931dup , CM000669.1:g.92123931dup GRCh37
NC_000007.12:g.91961867dup NCBI36
NG_008341.1:g.38917dup
NG_008341.2:g.38917dup

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2798dup (PEX1) MANE Select ENSP00000248633.4:p.Pro934AlafsTer7
ENST00000248633.8:c.2798dup (PEX1) ENSP00000248633.4:p.Pro934AlafsTer7
ENST00000428214.5:c.2627dup (PEX1) ENSP00000394413.1:p.Pro877AlafsTer7
ENST00000438045.5:c.1832dup (PEX1) ENSP00000410438.1:p.Pro612AlafsTer7
ENST00000484913.5:n.2837dup (PEX1)
ENST00000496420.5:n.2690dup (PEX1)
NM_000466.2:c.2798dup (PEX1) NP_000457.1:p.Pro934AlafsTer7
NM_001282677.1:c.2627dup (PEX1) NP_001269606.1:p.Pro877AlafsTer7
NM_001282678.1:c.2174dup (PEX1) NP_001269607.1:p.Pro726AlafsTer7
XM_005250433.3:c.1049dup (PEX1) XP_005250490.1:p.Pro351AlafsTer7
XR_242246.3:n.2894dup (PEX1)
XM_017012319.2:c.1049dup (PEX1) XP_016867808.1:p.Pro351AlafsTer7
XR_001744808.2:n.1825dup (PEX1)
XR_001744843.2:n.5586dup (GATAD1)
XR_242246.5:n.2845dup (PEX1)
XR_927494.3:n.4437dup (GATAD1)
XR_927503.3:n.4368dup (GATAD1)
NM_000466.3:c.2798dup (PEX1) MANE Select NP_000457.1:p.Pro934AlafsTer7
NM_001282677.2:c.2627dup (PEX1) NP_001269606.1:p.Pro877AlafsTer7
NM_001282678.2:c.2174dup (PEX1) NP_001269607.1:p.Pro726AlafsTer7
Search 100 bp 5'
Search 100 bp 3'