Canonical Allele Identifier: CA1725951639

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522105_92522106delinsTC , CM000669.2:g.92522105_92522106delinsTC	GRCh38
NC_000007.13:g.92151419_92151420delinsTC , CM000669.1:g.92151419_92151420delinsTC	GRCh37
NC_000007.12:g.91989355_91989356delinsTC	NCBI36
NG_008341.1:g.11426_11427delinsGA
NG_008341.2:g.11426_11427delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.269_270delinsGA MANE Select	ENSP00000248633.4:p.Gly90=
ENST00000248633.8:c.269_270delinsGA	ENSP00000248633.4:p.Gly90=
ENST00000428214.5:c.269_270delinsGA	ENSP00000394413.1:p.Gly90=
ENST00000438045.5:c.269_270delinsGA	ENSP00000410438.1:p.Gly90=
ENST00000484913.5:n.273_274delinsGA
NM_000466.2:c.269_270delinsGA	NP_000457.1:p.Gly90=
NM_001282677.1:c.269_270delinsGA	NP_001269606.1:p.Gly90=
NM_001282678.1:c.-391_-390delinsGA	NP_001269607.1:n.-391_-390delinsGA
XR_242246.3:n.365_366delinsGA
XR_242246.5:n.316_317delinsGA
NM_000466.3:c.269_270delinsGA MANE Select	NP_000457.1:p.Gly90=
NM_001282677.2:c.269_270delinsGA	NP_001269606.1:p.Gly90=
NM_001282678.2:c.-391_-390delinsGA	NP_001269607.1:n.-391_-390delinsGA