Canonical Allele Identifier: CA2776947518

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518465_92518466insACG , CM000669.2:g.92518465_92518466insACG	GRCh38
NC_000007.13:g.92147779_92147780insACG , CM000669.1:g.92147779_92147780insACG	GRCh37
NC_000007.12:g.91985715_91985716insACG	NCBI36
NG_008341.1:g.15066_15067insCGT
NG_008341.2:g.15066_15067insCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-211_358-210insCGT MANE Select	ENSP00000248633.4:n.358-211_358-210insCGT
ENST00000248633.8:c.358-211_358-210insCGT	ENSP00000248633.4:n.358-211_358-210insCGT
ENST00000428214.5:c.358-211_358-210insCGT	ENSP00000394413.1:n.358-211_358-210insCGT
ENST00000438045.5:c.273+3636_273+3637insCGT	ENSP00000410438.1:n.273+3636_273+3637insCGT
ENST00000484913.5:n.397-211_397-210insCGT
NM_000466.2:c.358-211_358-210insCGT	NP_000457.1:n.358-211_358-210insCGT
NM_001282677.1:c.358-211_358-210insCGT	NP_001269606.1:n.358-211_358-210insCGT
NM_001282678.1:c.-267-211_-267-210insCGT	NP_001269607.1:n.-267-211_-267-210insCGT
XR_242246.3:n.454-211_454-210insCGT
XR_242246.5:n.405-211_405-210insCGT
NM_000466.3:c.358-211_358-210insCGT MANE Select	NP_000457.1:n.358-211_358-210insCGT
NM_001282677.2:c.358-211_358-210insCGT	NP_001269606.1:n.358-211_358-210insCGT
NM_001282678.2:c.-267-211_-267-210insCGT	NP_001269607.1:n.-267-211_-267-210insCGT