Canonical Allele Identifier: CA1725947982

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517854_92517858delinsTTGAC , CM000669.2:g.92517854_92517858delinsTTGAC	GRCh38
NC_000007.13:g.92147168_92147172delinsTTGAC , CM000669.1:g.92147168_92147172delinsTTGAC	GRCh37
NC_000007.12:g.91985104_91985108delinsTTGAC	NCBI36
NG_008341.1:g.15674_15678delinsGTCAA
NG_008341.2:g.15674_15678delinsGTCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.657_661delinsGTCAA MANE Select	ENSP00000248633.4:p.Gln219=
ENST00000248633.8:c.657_661delinsGTCAA	ENSP00000248633.4:p.Gln219=
ENST00000428214.5:c.657_661delinsGTCAA	ENSP00000394413.1:p.Gln219=
ENST00000438045.5:c.274-3891_274-3887delinsGTCAA	ENSP00000410438.1:n.274-3891_274-3887delinsGTCAA
ENST00000484913.5:n.696_700delinsGTCAA
NM_000466.2:c.657_661delinsGTCAA	NP_000457.1:p.Gln219=
NM_001282677.1:c.657_661delinsGTCAA	NP_001269606.1:p.Gln219=
NM_001282678.1:c.33_37delinsGTCAA	NP_001269607.1:p.Gln11=
XR_242246.3:n.753_757delinsGTCAA
XR_242246.5:n.704_708delinsGTCAA
NM_000466.3:c.657_661delinsGTCAA MANE Select	NP_000457.1:p.Gln219=
NM_001282677.2:c.657_661delinsGTCAA	NP_001269606.1:p.Gln219=
NM_001282678.2:c.33_37delinsGTCAA	NP_001269607.1:p.Gln11=