Canonical Allele Identifier: CA2776947672

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522319_92522322del , CM000669.2:g.92522319_92522322del	GRCh38
NC_000007.13:g.92151633_92151636del , CM000669.1:g.92151633_92151636del	GRCh37
NC_000007.12:g.91989569_91989572del	NCBI36
NG_008341.1:g.11211_11214del
NG_008341.2:g.11211_11214del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.130-76_130-73del MANE Select	ENSP00000248633.4:n.130-76_130-73del
ENST00000248633.8:c.130-76_130-73del	ENSP00000248633.4:n.130-76_130-73del
ENST00000428214.5:c.130-76_130-73del	ENSP00000394413.1:n.130-76_130-73del
ENST00000438045.5:c.130-76_130-73del	ENSP00000410438.1:n.130-76_130-73del
ENST00000484913.5:n.134-76_134-73del
NM_000466.2:c.130-76_130-73del	NP_000457.1:n.130-76_130-73del
NM_001282677.1:c.130-76_130-73del	NP_001269606.1:n.130-76_130-73del
NM_001282678.1:c.-530-76_-530-73del	NP_001269607.1:n.-530-76_-530-73del
XR_242246.3:n.226-76_226-73del
XR_242246.5:n.177-76_177-73del
NM_000466.3:c.130-76_130-73del MANE Select	NP_000457.1:n.130-76_130-73del
NM_001282677.2:c.130-76_130-73del	NP_001269606.1:n.130-76_130-73del
NM_001282678.2:c.-530-76_-530-73del	NP_001269607.1:n.-530-76_-530-73del