Canonical Allele Identifier: CA2776947675

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522322_92522324del , CM000669.2:g.92522322_92522324del	GRCh38
NC_000007.13:g.92151636_92151638del , CM000669.1:g.92151636_92151638del	GRCh37
NC_000007.12:g.91989572_91989574del	NCBI36
NG_008341.1:g.11208_11210del
NG_008341.2:g.11208_11210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.130-79_130-77del MANE Select	ENSP00000248633.4:n.130-79_130-77del
ENST00000248633.8:c.130-79_130-77del	ENSP00000248633.4:n.130-79_130-77del
ENST00000428214.5:c.130-79_130-77del	ENSP00000394413.1:n.130-79_130-77del
ENST00000438045.5:c.130-79_130-77del	ENSP00000410438.1:n.130-79_130-77del
ENST00000484913.5:n.134-79_134-77del
NM_000466.2:c.130-79_130-77del	NP_000457.1:n.130-79_130-77del
NM_001282677.1:c.130-79_130-77del	NP_001269606.1:n.130-79_130-77del
NM_001282678.1:c.-530-79_-530-77del	NP_001269607.1:n.-530-79_-530-77del
XR_242246.3:n.226-79_226-77del
XR_242246.5:n.177-79_177-77del
NM_000466.3:c.130-79_130-77del MANE Select	NP_000457.1:n.130-79_130-77del
NM_001282677.2:c.130-79_130-77del	NP_001269606.1:n.130-79_130-77del
NM_001282678.2:c.-530-79_-530-77del	NP_001269607.1:n.-530-79_-530-77del