Canonical Allele Identifier: CA2776947460

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518325_92518344del , CM000669.2:g.92518325_92518344del	GRCh38
NC_000007.13:g.92147639_92147658del , CM000669.1:g.92147639_92147658del	GRCh37
NC_000007.12:g.91985575_91985594del	NCBI36
NG_008341.1:g.15188_15207del
NG_008341.2:g.15188_15207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-89_358-70del MANE Select	ENSP00000248633.4:n.358-89_358-70del
ENST00000248633.8:c.358-89_358-70del	ENSP00000248633.4:n.358-89_358-70del
ENST00000428214.5:c.358-89_358-70del	ENSP00000394413.1:n.358-89_358-70del
ENST00000438045.5:c.273+3758_273+3777del	ENSP00000410438.1:n.273+3758_273+3777del
ENST00000484913.5:n.397-89_397-70del
NM_000466.2:c.358-89_358-70del	NP_000457.1:n.358-89_358-70del
NM_001282677.1:c.358-89_358-70del	NP_001269606.1:n.358-89_358-70del
NM_001282678.1:c.-267-89_-267-70del	NP_001269607.1:n.-267-89_-267-70del
XR_242246.3:n.454-89_454-70del
XR_242246.5:n.405-89_405-70del
NM_000466.3:c.358-89_358-70del MANE Select	NP_000457.1:n.358-89_358-70del
NM_001282677.2:c.358-89_358-70del	NP_001269606.1:n.358-89_358-70del
NM_001282678.2:c.-267-89_-267-70del	NP_001269607.1:n.-267-89_-267-70del