Canonical Allele Identifier: CA2683718155
Gene: PEX1 HGNC NCBI

Linked Data

gnomAD v4: 7-92496818-A-AGCT
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92496819_92496820insCTG , CM000669.2:g.92496819_92496820insCTG GRCh38
NC_000007.13:g.92126133_92126134insCTG , CM000669.1:g.92126133_92126134insCTG GRCh37
NC_000007.12:g.91964069_91964070insCTG NCBI36
NG_008341.1:g.36713_36714insAGC
NG_008341.2:g.36713_36714insAGC

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2719-42_2719-41insAGC MANE Select ENSP00000248633.4:n.2719-42_2719-41insAGC...
ENST00000248633.8:c.2719-42_2719-41insAGC ENSP00000248633.4:n.2719-42_2719-41insAGC...
ENST00000428214.5:c.2548-42_2548-41insAGC ENSP00000394413.1:n.2548-42_2548-41insAGC...
ENST00000438045.5:c.1753-42_1753-41insAGC ENSP00000410438.1:n.1753-42_1753-41insAGC...
ENST00000484913.5:n.2758-42_2758-41insAGC
ENST00000496420.5:n.2611-42_2611-41insAGC
NM_000466.2:c.2719-42_2719-41insAGC NP_000457.1:n.2719-42_2719-41insAGC
NM_001282677.1:c.2548-42_2548-41insAGC NP_001269606.1:n.2548-42_2548-41insAGC
NM_001282678.1:c.2095-42_2095-41insAGC NP_001269607.1:n.2095-42_2095-41insAGC
XM_005250433.3:c.970-42_970-41insAGC XP_005250490.1:n.970-42_970-41insAGC
XR_242246.3:n.2815-42_2815-41insAGC
XM_017012319.2:c.970-42_970-41insAGC XP_016867808.1:n.970-42_970-41insAGC
XR_001744808.2:n.1746-42_1746-41insAGC
XR_242246.5:n.2766-42_2766-41insAGC
NM_000466.3:c.2719-42_2719-41insAGC MANE Select NP_000457.1:n.2719-42_2719-41insAGC
NM_001282677.2:c.2548-42_2548-41insAGC NP_001269606.1:n.2548-42_2548-41insAGC
NM_001282678.2:c.2095-42_2095-41insAGC NP_001269607.1:n.2095-42_2095-41insAGC
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