Canonical Allele Identifier: CA2776947441

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518312_92518313insCAG , CM000669.2:g.92518312_92518313insCAG	GRCh38
NC_000007.13:g.92147626_92147627insCAG , CM000669.1:g.92147626_92147627insCAG	GRCh37
NC_000007.12:g.91985562_91985563insCAG	NCBI36
NG_008341.1:g.15219_15220insCTG
NG_008341.2:g.15219_15220insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-58_358-57insCTG MANE Select	ENSP00000248633.4:n.358-58_358-57insCTG
ENST00000248633.8:c.358-58_358-57insCTG	ENSP00000248633.4:n.358-58_358-57insCTG
ENST00000428214.5:c.358-58_358-57insCTG	ENSP00000394413.1:n.358-58_358-57insCTG
ENST00000438045.5:c.273+3789_273+3790insCTG	ENSP00000410438.1:n.273+3789_273+3790insCTG
ENST00000484913.5:n.397-58_397-57insCTG
NM_000466.2:c.358-58_358-57insCTG	NP_000457.1:n.358-58_358-57insCTG
NM_001282677.1:c.358-58_358-57insCTG	NP_001269606.1:n.358-58_358-57insCTG
NM_001282678.1:c.-267-58_-267-57insCTG	NP_001269607.1:n.-267-58_-267-57insCTG
XR_242246.3:n.454-58_454-57insCTG
XR_242246.5:n.405-58_405-57insCTG
NM_000466.3:c.358-58_358-57insCTG MANE Select	NP_000457.1:n.358-58_358-57insCTG
NM_001282677.2:c.358-58_358-57insCTG	NP_001269606.1:n.358-58_358-57insCTG
NM_001282678.2:c.-267-58_-267-57insCTG	NP_001269607.1:n.-267-58_-267-57insCTG