Canonical Allele Identifier: CA2683721085

Gene: PEX1

Linked Data

• gnomAD v4: 7-92519011-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519012del , CM000669.2:g.92519012del	GRCh38
NC_000007.13:g.92148326del , CM000669.1:g.92148326del	GRCh37
NC_000007.12:g.91986262del	NCBI36
NG_008341.1:g.14520del
NG_008341.2:g.14520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.340del MANE Select	ENSP00000248633.4:p.Asp114MetfsTer18
ENST00000248633.8:c.340del	ENSP00000248633.4:p.Asp114MetfsTer18
ENST00000428214.5:c.340del	ENSP00000394413.1:p.Asp114MetfsTer18
ENST00000438045.5:c.273+3090del	ENSP00000410438.1:n.273+3090del
ENST00000484913.5:n.344del
NM_000466.2:c.340del	NP_000457.1:p.Asp114MetfsTer18
NM_001282677.1:c.340del	NP_001269606.1:p.Asp114MetfsTer18
NM_001282678.1:c.-320del	NP_001269607.1:n.-320del
XR_242246.3:n.436del
XR_242246.5:n.387del
NM_000466.3:c.340del MANE Select	NP_000457.1:p.Asp114MetfsTer18
NM_001282677.2:c.340del	NP_001269606.1:p.Asp114MetfsTer18
NM_001282678.2:c.-320del	NP_001269607.1:n.-320del