Canonical Allele Identifier: CA820103669
Gene: PEX3 HGNC NCBI

Linked Data

dbSNP Id: rs1351154675
gnomAD v3: 6-143485387-GGT-G
gnomAD v4: 6-143485387-GGT-G
MyVariant Identifiers: chr6:g.143806525_143806526del (hg19) chr6:g.143485388_143485389del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485388_143485389del , CM000668.2:g.143485388_143485389del GRCh38
NC_000006.11:g.143806525_143806526del , CM000668.1:g.143806525_143806526del GRCh37
NC_000006.10:g.143848218_143848219del NCBI36
NG_008459.1:g.39608_39609del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.1038+140_1038+141del MANE Select ENSP00000356563.4:n.1038+140_1038+141del
ENST00000367591.4:c.1038+140_1038+141del ENSP00000356563.4:n.1038+140_1038+141del
ENST00000585848.1:n.177+140_177+141del
NM_003630.2:c.1038+140_1038+141del NP_003621.1:n.1038+140_1038+141del
NM_003630.3:c.1038+140_1038+141del MANE Select NP_003621.1:n.1038+140_1038+141del
Search 100 bp 5'
Search 100 bp 3'