Canonical Allele Identifier: CA2776947480

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518337_92518342del , CM000669.2:g.92518337_92518342del	GRCh38
NC_000007.13:g.92147651_92147656del , CM000669.1:g.92147651_92147656del	GRCh37
NC_000007.12:g.91985587_91985592del	NCBI36
NG_008341.1:g.15190_15195del
NG_008341.2:g.15190_15195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-87_358-82del MANE Select	ENSP00000248633.4:n.358-87_358-82del
ENST00000248633.8:c.358-87_358-82del	ENSP00000248633.4:n.358-87_358-82del
ENST00000428214.5:c.358-87_358-82del	ENSP00000394413.1:n.358-87_358-82del
ENST00000438045.5:c.273+3760_273+3765del	ENSP00000410438.1:n.273+3760_273+3765del
ENST00000484913.5:n.397-87_397-82del
NM_000466.2:c.358-87_358-82del	NP_000457.1:n.358-87_358-82del
NM_001282677.1:c.358-87_358-82del	NP_001269606.1:n.358-87_358-82del
NM_001282678.1:c.-267-87_-267-82del	NP_001269607.1:n.-267-87_-267-82del
XR_242246.3:n.454-87_454-82del
XR_242246.5:n.405-87_405-82del
NM_000466.3:c.358-87_358-82del MANE Select	NP_000457.1:n.358-87_358-82del
NM_001282677.2:c.358-87_358-82del	NP_001269606.1:n.358-87_358-82del
NM_001282678.2:c.-267-87_-267-82del	NP_001269607.1:n.-267-87_-267-82del