Canonical Allele Identifier: CA1725948492

Gene: PEX1

Linked Data

• dbSNP Id: rs1792890694

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518170_92518179del , CM000669.2:g.92518170_92518179del	GRCh38
NC_000007.13:g.92147484_92147493del , CM000669.1:g.92147484_92147493del	GRCh37
NC_000007.12:g.91985420_91985429del	NCBI36
NG_008341.1:g.15354_15363del
NG_008341.2:g.15354_15363del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.435_444del MANE Select	ENSP00000248633.4:p.Trp146AsnfsTer12
ENST00000248633.8:c.435_444del	ENSP00000248633.4:p.Trp146AsnfsTer12
ENST00000428214.5:c.435_444del	ENSP00000394413.1:p.Trp146AsnfsTer12
ENST00000438045.5:c.273+3924_273+3933del	ENSP00000410438.1:n.273+3924_273+3933del
ENST00000484913.5:n.474_483del
NM_000466.2:c.435_444del	NP_000457.1:p.Trp146AsnfsTer12
NM_001282677.1:c.435_444del	NP_001269606.1:p.Trp146AsnfsTer12
NM_001282678.1:c.-190_-181del	NP_001269607.1:n.-190_-181del
XR_242246.3:n.531_540del
XR_242246.5:n.482_491del
NM_000466.3:c.435_444del MANE Select	NP_000457.1:p.Trp146AsnfsTer12
NM_001282677.2:c.435_444del	NP_001269606.1:p.Trp146AsnfsTer12
NM_001282678.2:c.-190_-181del	NP_001269607.1:n.-190_-181del