Canonical Allele Identifier: CA2573140576
Gene: PEX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1488517
ClinVar RCV Id: RCV002009182
dbSNP Id: rs2128748023

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485139_143485140delinsGG , CM000668.2:g.143485139_143485140delinsGG GRCh38
NC_000006.11:g.143806276_143806277delinsGG , CM000668.1:g.143806276_143806277delinsGG GRCh37
NC_000006.10:g.143847969_143847970delinsGG NCBI36
NG_008459.1:g.39359_39360delinsGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.942-13_942-12delinsGG MANE Select ENSP00000356563.4:n.942-13_942-12delinsGG
ENST00000367591.4:c.942-13_942-12delinsGG ENSP00000356563.4:n.942-13_942-12delinsGG
ENST00000585848.1:n.68_69delinsGG
NM_003630.2:c.942-13_942-12delinsGG NP_003621.1:n.942-13_942-12delinsGG
NM_003630.3:c.942-13_942-12delinsGG MANE Select NP_003621.1:n.942-13_942-12delinsGG