Canonical Allele Identifier: CA1725948701

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518332_92518333delinsCT , CM000669.2:g.92518332_92518333delinsCT	GRCh38
NC_000007.13:g.92147646_92147647delinsCT , CM000669.1:g.92147646_92147647delinsCT	GRCh37
NC_000007.12:g.91985582_91985583delinsCT	NCBI36
NG_008341.1:g.15199_15200delinsAG
NG_008341.2:g.15199_15200delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-78_358-77delinsAG MANE Select	ENSP00000248633.4:n.358-78_358-77delinsAG
ENST00000248633.8:c.358-78_358-77delinsAG	ENSP00000248633.4:n.358-78_358-77delinsAG
ENST00000428214.5:c.358-78_358-77delinsAG	ENSP00000394413.1:n.358-78_358-77delinsAG
ENST00000438045.5:c.273+3769_273+3770delinsAG	ENSP00000410438.1:n.273+3769_273+3770delinsAG
ENST00000484913.5:n.397-78_397-77delinsAG
NM_000466.2:c.358-78_358-77delinsAG	NP_000457.1:n.358-78_358-77delinsAG
NM_001282677.1:c.358-78_358-77delinsAG	NP_001269606.1:n.358-78_358-77delinsAG
NM_001282678.1:c.-267-78_-267-77delinsAG	NP_001269607.1:n.-267-78_-267-77delinsAG
XR_242246.3:n.454-78_454-77delinsAG
XR_242246.5:n.405-78_405-77delinsAG
NM_000466.3:c.358-78_358-77delinsAG MANE Select	NP_000457.1:n.358-78_358-77delinsAG
NM_001282677.2:c.358-78_358-77delinsAG	NP_001269606.1:n.358-78_358-77delinsAG
NM_001282678.2:c.-267-78_-267-77delinsAG	NP_001269607.1:n.-267-78_-267-77delinsAG