Canonical Allele Identifier: CA2683720701

Gene: PEX1

Linked Data

• gnomAD v4: 7-92518183-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518187_92518188del , CM000669.2:g.92518187_92518188del	GRCh38
NC_000007.13:g.92147501_92147502del , CM000669.1:g.92147501_92147502del	GRCh37
NC_000007.12:g.91985437_91985438del	NCBI36
NG_008341.1:g.15347_15348del
NG_008341.2:g.15347_15348del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.428_429del MANE Select	ENSP00000248633.4:p.Phe143SerfsTer5
ENST00000248633.8:c.428_429del	ENSP00000248633.4:p.Phe143SerfsTer5
ENST00000428214.5:c.428_429del	ENSP00000394413.1:p.Phe143SerfsTer5
ENST00000438045.5:c.273+3917_273+3918del	ENSP00000410438.1:n.273+3917_273+3918del
ENST00000484913.5:n.467_468del
NM_000466.2:c.428_429del	NP_000457.1:p.Phe143SerfsTer5
NM_001282677.1:c.428_429del	NP_001269606.1:p.Phe143SerfsTer5
NM_001282678.1:c.-197_-196del	NP_001269607.1:n.-197_-196del
XR_242246.3:n.524_525del
XR_242246.5:n.475_476del
NM_000466.3:c.428_429del MANE Select	NP_000457.1:p.Phe143SerfsTer5
NM_001282677.2:c.428_429del	NP_001269606.1:p.Phe143SerfsTer5
NM_001282678.2:c.-197_-196del	NP_001269607.1:n.-197_-196del