Canonical Allele Identifier: CA728427993
Gene: PEX12 HGNC NCBI

Linked Data

dbSNP Id: rs1375375980
gnomAD v3: 17-35575729-CTG-C
gnomAD v4: 17-35575729-CTG-C
MyVariant Identifiers: chr17:g.33902749_33902750del (hg19) chr17:g.35575730_35575731del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35575732_35575733del , CM000679.2:g.35575732_35575733del GRCh38
NC_000017.10:g.33902751_33902752del , CM000679.1:g.33902751_33902752del GRCh37
NC_000017.9:g.30926864_30926865del NCBI36
NG_008447.1:g.7907_7908del

Transcript Alleles

HGVS Amino-acid change
ENST00000225873.9:c.*51_*52del MANE Select ENSP00000225873.3:n.*51_*52del
ENST00000225873.8:c.*51_*52del ENSP00000225873.3:n.*51_*52del
ENST00000613219.4:c.*51_*52del ENSP00000482609.1:n.*51_*52del
NM_000286.2:c.*51_*52del NP_000277.1:n.*51_*52del
NM_000286.3:c.*51_*52del MANE Select NP_000277.1:n.*51_*52del
Search 100 bp 5'
Search 100 bp 3'