Canonical Allele Identifier: CA843846975

Gene: PEX1

Linked Data

• dbSNP Id: rs1461674764
• gnomAD v3: 7-92518119-CA-C
• gnomAD v4: 7-92518119-CA-C
• MyVariant Identifiers: chr7:g.92147434del (hg19) ; chr7:g.92518120del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518122del , CM000669.2:g.92518122del	GRCh38
NC_000007.13:g.92147436del , CM000669.1:g.92147436del	GRCh37
NC_000007.12:g.91985372del	NCBI36
NG_008341.1:g.15412del
NG_008341.2:g.15412del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.472+21del MANE Select	ENSP00000248633.4:n.472+21del
ENST00000248633.8:c.472+21del	ENSP00000248633.4:n.472+21del
ENST00000428214.5:c.472+21del	ENSP00000394413.1:n.472+21del
ENST00000438045.5:c.273+3982del	ENSP00000410438.1:n.273+3982del
ENST00000484913.5:n.511+21del
NM_000466.2:c.472+21del	NP_000457.1:n.472+21del
NM_001282677.1:c.472+21del	NP_001269606.1:n.472+21del
NM_001282678.1:c.-153+21del	NP_001269607.1:n.-153+21del
XR_242246.3:n.568+21del
XR_242246.5:n.519+21del
NM_000466.3:c.472+21del MANE Select	NP_000457.1:n.472+21del
NM_001282677.2:c.472+21del	NP_001269606.1:n.472+21del
NM_001282678.2:c.-153+21del	NP_001269607.1:n.-153+21del