Canonical Allele Identifier: CA2776947493

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518357_92518371del , CM000669.2:g.92518357_92518371del	GRCh38
NC_000007.13:g.92147671_92147685del , CM000669.1:g.92147671_92147685del	GRCh37
NC_000007.12:g.91985607_91985621del	NCBI36
NG_008341.1:g.15163_15177del
NG_008341.2:g.15163_15177del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-114_358-100del MANE Select	ENSP00000248633.4:n.358-114_358-100del
ENST00000248633.8:c.358-114_358-100del	ENSP00000248633.4:n.358-114_358-100del
ENST00000428214.5:c.358-114_358-100del	ENSP00000394413.1:n.358-114_358-100del
ENST00000438045.5:c.273+3733_273+3747del	ENSP00000410438.1:n.273+3733_273+3747del
ENST00000484913.5:n.397-114_397-100del
NM_000466.2:c.358-114_358-100del	NP_000457.1:n.358-114_358-100del
NM_001282677.1:c.358-114_358-100del	NP_001269606.1:n.358-114_358-100del
NM_001282678.1:c.-267-114_-267-100del	NP_001269607.1:n.-267-114_-267-100del
XR_242246.3:n.454-114_454-100del
XR_242246.5:n.405-114_405-100del
NM_000466.3:c.358-114_358-100del MANE Select	NP_000457.1:n.358-114_358-100del
NM_001282677.2:c.358-114_358-100del	NP_001269606.1:n.358-114_358-100del
NM_001282678.2:c.-267-114_-267-100del	NP_001269607.1:n.-267-114_-267-100del