Canonical Allele Identifier: CA2776947260

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517294del , CM000669.2:g.92517294del	GRCh38
NC_000007.13:g.92146608del , CM000669.1:g.92146608del	GRCh37
NC_000007.12:g.91984544del	NCBI36
NG_008341.1:g.16239del
NG_008341.2:g.16239del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1222del MANE Select	ENSP00000248633.4:p.His408IlefsTer11
ENST00000248633.8:c.1222del	ENSP00000248633.4:p.His408IlefsTer11
ENST00000422866.1:c.123del
ENST00000428214.5:c.1222del	ENSP00000394413.1:p.His408IlefsTer11
ENST00000438045.5:c.274-3326del	ENSP00000410438.1:n.274-3326del
ENST00000484913.5:n.1261del
NM_000466.2:c.1222del	NP_000457.1:p.His408IlefsTer11
NM_001282677.1:c.1222del	NP_001269606.1:p.His408IlefsTer11
NM_001282678.1:c.598del	NP_001269607.1:p.His200IlefsTer11
XR_242246.3:n.1318del
XM_017012319.2:c.-445del	XP_016867808.1:n.-445del
XR_001744808.2:n.332del
XR_242246.5:n.1269del
NM_000466.3:c.1222del MANE Select	NP_000457.1:p.His408IlefsTer11
NM_001282677.2:c.1222del	NP_001269606.1:p.His408IlefsTer11
NM_001282678.2:c.598del	NP_001269607.1:p.His200IlefsTer11