Canonical Allele Identifier: CA2776947426

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518303_92518305del , CM000669.2:g.92518303_92518305del	GRCh38
NC_000007.13:g.92147617_92147619del , CM000669.1:g.92147617_92147619del	GRCh37
NC_000007.12:g.91985553_91985555del	NCBI36
NG_008341.1:g.15228_15230del
NG_008341.2:g.15228_15230del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.358-49_358-47del MANE Select	ENSP00000248633.4:n.358-49_358-47del
ENST00000248633.8:c.358-49_358-47del	ENSP00000248633.4:n.358-49_358-47del
ENST00000428214.5:c.358-49_358-47del	ENSP00000394413.1:n.358-49_358-47del
ENST00000438045.5:c.273+3798_273+3800del	ENSP00000410438.1:n.273+3798_273+3800del
ENST00000484913.5:n.397-49_397-47del
NM_000466.2:c.358-49_358-47del	NP_000457.1:n.358-49_358-47del
NM_001282677.1:c.358-49_358-47del	NP_001269606.1:n.358-49_358-47del
NM_001282678.1:c.-267-49_-267-47del	NP_001269607.1:n.-267-49_-267-47del
XR_242246.3:n.454-49_454-47del
XR_242246.5:n.405-49_405-47del
NM_000466.3:c.358-49_358-47del MANE Select	NP_000457.1:n.358-49_358-47del
NM_001282677.2:c.358-49_358-47del	NP_001269606.1:n.358-49_358-47del
NM_001282678.2:c.-267-49_-267-47del	NP_001269607.1:n.-267-49_-267-47del