Canonical Allele Identifier: CA2776947434

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518309_92518310insA , CM000669.2:g.92518309_92518310insA	GRCh38
NC_000007.13:g.92147623_92147624insA , CM000669.1:g.92147623_92147624insA	GRCh37
NC_000007.12:g.91985559_91985560insA	NCBI36
NG_008341.1:g.15222_15223insT
NG_008341.2:g.15222_15223insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-55_358-54insT MANE Select	ENSP00000248633.4:n.358-55_358-54insT
ENST00000248633.8:c.358-55_358-54insT	ENSP00000248633.4:n.358-55_358-54insT
ENST00000428214.5:c.358-55_358-54insT	ENSP00000394413.1:n.358-55_358-54insT
ENST00000438045.5:c.273+3792_273+3793insT	ENSP00000410438.1:n.273+3792_273+3793insT
ENST00000484913.5:n.397-55_397-54insT
NM_000466.2:c.358-55_358-54insT	NP_000457.1:n.358-55_358-54insT
NM_001282677.1:c.358-55_358-54insT	NP_001269606.1:n.358-55_358-54insT
NM_001282678.1:c.-267-55_-267-54insT	NP_001269607.1:n.-267-55_-267-54insT
XR_242246.3:n.454-55_454-54insT
XR_242246.5:n.405-55_405-54insT
NM_000466.3:c.358-55_358-54insT MANE Select	NP_000457.1:n.358-55_358-54insT
NM_001282677.2:c.358-55_358-54insT	NP_001269606.1:n.358-55_358-54insT
NM_001282678.2:c.-267-55_-267-54insT	NP_001269607.1:n.-267-55_-267-54insT