Canonical Allele Identifier: CA2497183849

Gene: PEX7

Linked Data

• dbSNP Id: rs1774095088
• gnomAD v4: 6-136822633-CCGGGGCAGCGAGGGCCGGGGGCGGCGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822638_136822665del , CM000668.2:g.136822638_136822665del	GRCh38
NC_000006.11:g.137143776_137143803del , CM000668.1:g.137143776_137143803del	GRCh37
NC_000006.10:g.137185469_137185496del	NCBI36
NG_008462.1:g.5059_5086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.-28_-1del MANE Select	ENSP00000315680.3:n.-28_-1del
ENST00000541292.6:c.-28_-1del	ENSP00000441004.1:n.-28_-1del
ENST00000318471.4:c.-28_-1del	ENSP00000315680.3:n.-28_-1del
ENST00000367756.8:c.-28_-1del	ENSP00000356730.4:n.-28_-1del
ENST00000541292.5:c.-28_-1del	ENSP00000441004.1:n.-28_-1del
NM_000288.3:c.-28_-1del	NP_000279.1:n.-28_-1del
XM_006715502.1:c.-28_-1del	XP_006715565.1:n.-28_-1del
XM_011535900.1:c.-28_-1del	XP_011534202.1:n.-28_-1del
XM_006715502.2:c.-28_-1del	XP_006715565.1:n.-28_-1del
XM_017010934.2:c.-28_-1del	XP_016866423.1:n.-28_-1del
NM_000288.4:c.-28_-1del MANE Select	NP_000279.1:n.-28_-1del