Canonical Allele Identifier: CA1725948688

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518323_92518324delinsAT , CM000669.2:g.92518323_92518324delinsAT	GRCh38
NC_000007.13:g.92147637_92147638delinsAT , CM000669.1:g.92147637_92147638delinsAT	GRCh37
NC_000007.12:g.91985573_91985574delinsAT	NCBI36
NG_008341.1:g.15208_15209delinsAT
NG_008341.2:g.15208_15209delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-69_358-68delinsAT MANE Select	ENSP00000248633.4:n.358-69_358-68delinsAT
ENST00000248633.8:c.358-69_358-68delinsAT	ENSP00000248633.4:n.358-69_358-68delinsAT
ENST00000428214.5:c.358-69_358-68delinsAT	ENSP00000394413.1:n.358-69_358-68delinsAT
ENST00000438045.5:c.273+3778_273+3779delinsAT	ENSP00000410438.1:n.273+3778_273+3779delinsAT
ENST00000484913.5:n.397-69_397-68delinsAT
NM_000466.2:c.358-69_358-68delinsAT	NP_000457.1:n.358-69_358-68delinsAT
NM_001282677.1:c.358-69_358-68delinsAT	NP_001269606.1:n.358-69_358-68delinsAT
NM_001282678.1:c.-267-69_-267-68delinsAT	NP_001269607.1:n.-267-69_-267-68delinsAT
XR_242246.3:n.454-69_454-68delinsAT
XR_242246.5:n.405-69_405-68delinsAT
NM_000466.3:c.358-69_358-68delinsAT MANE Select	NP_000457.1:n.358-69_358-68delinsAT
NM_001282677.2:c.358-69_358-68delinsAT	NP_001269606.1:n.358-69_358-68delinsAT
NM_001282678.2:c.-267-69_-267-68delinsAT	NP_001269607.1:n.-267-69_-267-68delinsAT