Canonical Allele Identifier: CA2680487943

Gene: PEX7

Linked Data

• gnomAD v4: 6-136822771-ACCGCGCAGCACTACGGCATCGCGGGTGAGGCGGCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822781_136822815del , CM000668.2:g.136822781_136822815del	GRCh38
NC_000006.11:g.137143919_137143953del , CM000668.1:g.137143919_137143953del	GRCh37
NC_000006.10:g.137185612_137185646del	NCBI36
NG_008462.1:g.5202_5236del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.116_130+20del
ENST00000541292.6:c.116_130+20del
ENST00000678593.1:c.116_130+20del
ENST00000318471.4:c.116_130+20del
ENST00000367756.8:c.116_130+20del
ENST00000541292.5:c.116_130+20del
NM_000288.3:c.116_130+20del
XM_006715502.1:c.116_130+20del
XM_011535900.1:c.116_130+20del
XM_006715502.2:c.116_130+20del
XM_017010934.2:c.116_130+20del
NM_000288.4:c.116_130+20del