Canonical Allele Identifier: CA2776947421

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518293_92518294insAGG , CM000669.2:g.92518293_92518294insAGG	GRCh38
NC_000007.13:g.92147607_92147608insAGG , CM000669.1:g.92147607_92147608insAGG	GRCh37
NC_000007.12:g.91985543_91985544insAGG	NCBI36
NG_008341.1:g.15238_15239insCCT
NG_008341.2:g.15238_15239insCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-39_358-38insCCT MANE Select	ENSP00000248633.4:n.358-39_358-38insCCT
ENST00000248633.8:c.358-39_358-38insCCT	ENSP00000248633.4:n.358-39_358-38insCCT
ENST00000428214.5:c.358-39_358-38insCCT	ENSP00000394413.1:n.358-39_358-38insCCT
ENST00000438045.5:c.273+3808_273+3809insCCT	ENSP00000410438.1:n.273+3808_273+3809insCCT
ENST00000484913.5:n.397-39_397-38insCCT
NM_000466.2:c.358-39_358-38insCCT	NP_000457.1:n.358-39_358-38insCCT
NM_001282677.1:c.358-39_358-38insCCT	NP_001269606.1:n.358-39_358-38insCCT
NM_001282678.1:c.-267-39_-267-38insCCT	NP_001269607.1:n.-267-39_-267-38insCCT
XR_242246.3:n.454-39_454-38insCCT
XR_242246.5:n.405-39_405-38insCCT
NM_000466.3:c.358-39_358-38insCCT MANE Select	NP_000457.1:n.358-39_358-38insCCT
NM_001282677.2:c.358-39_358-38insCCT	NP_001269606.1:n.358-39_358-38insCCT
NM_001282678.2:c.-267-39_-267-38insCCT	NP_001269607.1:n.-267-39_-267-38insCCT