Canonical Allele Identifier: CA1725938993

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504843_92504850delinsTCCACACT , CM000669.2:g.92504843_92504850delinsTCCACACT	GRCh38
NC_000007.13:g.92134157_92134164delinsTCCACACT , CM000669.1:g.92134157_92134164delinsTCCACACT	GRCh37
NC_000007.12:g.91972093_91972100delinsTCCACACT	NCBI36
NG_008341.1:g.28682_28689delinsAGTGTGGA
NG_008341.2:g.28682_28689delinsAGTGTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1953_1960delinsAGTGTGGA MANE Select	ENSP00000248633.4:p.Ala651=
ENST00000248633.8:c.1953_1960delinsAGTGTGGA	ENSP00000248633.4:p.Ala651=
ENST00000428214.5:c.1900+1398_1900+1405delinsAGTGTGGA	ENSP00000394413.1:n.1900+1398_1900+1405delinsAGTGTGGA
ENST00000438045.5:c.987_994delinsAGTGTGGA	ENSP00000410438.1:p.Ala329=
ENST00000484913.5:n.1992_1999delinsAGTGTGGA
ENST00000496420.5:n.1629_1636delinsAGTGTGGA
NM_000466.2:c.1953_1960delinsAGTGTGGA	NP_000457.1:p.Ala651=
NM_001282677.1:c.1900+1398_1900+1405delinsAGTGTGGA	NP_001269606.1:n.1900+1398_1900+1405delinsAGTGTGGA
NM_001282678.1:c.1329_1336delinsAGTGTGGA	NP_001269607.1:p.Ala443=
XM_005250433.3:c.204_211delinsAGTGTGGA	XP_005250490.1:p.Ala68=
XR_242246.3:n.2049_2056delinsAGTGTGGA
XM_017012319.2:c.204_211delinsAGTGTGGA	XP_016867808.1:p.Ala68=
XR_001744808.2:n.980_987delinsAGTGTGGA
XR_242246.5:n.2000_2007delinsAGTGTGGA
NM_000466.3:c.1953_1960delinsAGTGTGGA MANE Select	NP_000457.1:p.Ala651=
NM_001282677.2:c.1900+1398_1900+1405delinsAGTGTGGA	NP_001269606.1:n.1900+1398_1900+1405delinsAGTGTGGA
NM_001282678.2:c.1329_1336delinsAGTGTGGA	NP_001269607.1:p.Ala443=