Canonical Allele Identifier: CA16041014
Gene: PEX7 HGNC NCBI

Linked Data

ClinVar Variation Id: 370867
dbSNP Id: rs1057516827

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136846163del , CM000668.2:g.136846163del GRCh38
NC_000006.11:g.137167301del , CM000668.1:g.137167301del GRCh37
NC_000006.10:g.137208994del NCBI36
NG_008462.1:g.28584del

Transcript Alleles

HGVS Amino-acid change
ENST00000318471.5:c.508del MANE Select ENSP00000315680.3:p.Cys170ValfsTer11
ENST00000541292.6:c.508del ENSP00000441004.1:p.Cys170ValfsTer11
ENST00000678002.1:c.214+19694del
ENST00000678557.1:c.394del ENSP00000502962.1:p.Cys132ValfsTer11
ENST00000678593.1:c.513del ENSP00000503841.1:n.513del
ENST00000679286.1:c.388del ENSP00000503168.1:p.Cys130ValfsTer11
ENST00000318471.4:c.508del ENSP00000315680.3:p.Cys170ValfsTer11
ENST00000541292.5:c.508del ENSP00000441004.1:p.Cys170ValfsTer11
NM_000288.3:c.508del NP_000279.1:p.Cys170ValfsTer11
XM_005267019.3:c.394del XP_005267076.1:p.Cys132ValfsTer11
XM_006715502.1:c.339+19694del XP_006715565.1:n.339+19694del
XM_011535900.1:c.508del XP_011534202.1:p.Cys170ValfsTer14
XM_005267019.4:c.394del XP_005267076.1:p.Cys132ValfsTer11
XM_006715502.2:c.339+19694del XP_006715565.1:n.339+19694del
XM_017010934.2:c.508del XP_016866423.1:p.Cys170ValfsTer14
NM_000288.4:c.508del MANE Select NP_000279.1:p.Cys170ValfsTer11