Canonical Allele Identifier: CA2776947458

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518320_92518326del , CM000669.2:g.92518320_92518326del	GRCh38
NC_000007.13:g.92147634_92147640del , CM000669.1:g.92147634_92147640del	GRCh37
NC_000007.12:g.91985570_91985576del	NCBI36
NG_008341.1:g.15206_15212del
NG_008341.2:g.15206_15212del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-71_358-65del MANE Select	ENSP00000248633.4:n.358-71_358-65del
ENST00000248633.8:c.358-71_358-65del	ENSP00000248633.4:n.358-71_358-65del
ENST00000428214.5:c.358-71_358-65del	ENSP00000394413.1:n.358-71_358-65del
ENST00000438045.5:c.273+3776_273+3782del	ENSP00000410438.1:n.273+3776_273+3782del
ENST00000484913.5:n.397-71_397-65del
NM_000466.2:c.358-71_358-65del	NP_000457.1:n.358-71_358-65del
NM_001282677.1:c.358-71_358-65del	NP_001269606.1:n.358-71_358-65del
NM_001282678.1:c.-267-71_-267-65del	NP_001269607.1:n.-267-71_-267-65del
XR_242246.3:n.454-71_454-65del
XR_242246.5:n.405-71_405-65del
NM_000466.3:c.358-71_358-65del MANE Select	NP_000457.1:n.358-71_358-65del
NM_001282677.2:c.358-71_358-65del	NP_001269606.1:n.358-71_358-65del
NM_001282678.2:c.-267-71_-267-65del	NP_001269607.1:n.-267-71_-267-65del