Canonical Allele Identifier: CA3005626761

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518909del , CM000669.2:g.92518909del	GRCh38
NC_000007.13:g.92148223del , CM000669.1:g.92148223del	GRCh37
NC_000007.12:g.91986159del	NCBI36
NG_008341.1:g.14623del
NG_008341.2:g.14623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.357+86del MANE Select	ENSP00000248633.4:n.357+86del
ENST00000248633.8:c.357+86del	ENSP00000248633.4:n.357+86del
ENST00000428214.5:c.357+86del	ENSP00000394413.1:n.357+86del
ENST00000438045.5:c.273+3193del	ENSP00000410438.1:n.273+3193del
ENST00000484913.5:n.396+51del
NM_000466.2:c.357+86del	NP_000457.1:n.357+86del
NM_001282677.1:c.357+86del	NP_001269606.1:n.357+86del
NM_001282678.1:c.-268+51del	NP_001269607.1:n.-268+51del
XR_242246.3:n.453+86del
XR_242246.5:n.404+86del
NM_000466.3:c.357+86del MANE Select	NP_000457.1:n.357+86del
NM_001282677.2:c.357+86del	NP_001269606.1:n.357+86del
NM_001282678.2:c.-268+51del	NP_001269607.1:n.-268+51del