Canonical Allele Identifier: CA1725938747

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504752_92504764delinsTGCACCGCATCAG , CM000669.2:g.92504752_92504764delinsTGCACCGCATCAG	GRCh38
NC_000007.13:g.92134066_92134078delinsTGCACCGCATCAG , CM000669.1:g.92134066_92134078delinsTGCACCGCATCAG	GRCh37
NC_000007.12:g.91972002_91972014delinsTGCACCGCATCAG	NCBI36
NG_008341.1:g.28768_28780delinsCTGATGCGGTGCA
NG_008341.2:g.28768_28780delinsCTGATGCGGTGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2039_2051delinsCTGATGCGGTGCA MANE Select	ENSP00000248633.4:p.Pro680=
ENST00000248633.8:c.2039_2051delinsCTGATGCGGTGCA	ENSP00000248633.4:p.Pro680=
ENST00000428214.5:c.1900+1484_1900+1496delinsCTGATGCGGTGCA	ENSP00000394413.1:n.1900+1484_1900+1496de...
ENST00000438045.5:c.1073_1085delinsCTGATGCGGTGCA	ENSP00000410438.1:p.Pro358=
ENST00000484913.5:n.2078_2090delinsCTGATGCGGTGCA
ENST00000496420.5:n.1715_1727delinsCTGATGCGGTGCA
NM_000466.2:c.2039_2051delinsCTGATGCGGTGCA	NP_000457.1:p.Pro680=
NM_001282677.1:c.1900+1484_1900+1496delinsCTGATGCGGTGCA	NP_001269606.1:n.1900+1484_1900+1496delin...
NM_001282678.1:c.1415_1427delinsCTGATGCGGTGCA	NP_001269607.1:p.Pro472=
XM_005250433.3:c.290_302delinsCTGATGCGGTGCA	XP_005250490.1:p.Pro97=
XR_242246.3:n.2135_2147delinsCTGATGCGGTGCA
XM_017012319.2:c.290_302delinsCTGATGCGGTGCA	XP_016867808.1:p.Pro97=
XR_001744808.2:n.1066_1078delinsCTGATGCGGTGCA
XR_242246.5:n.2086_2098delinsCTGATGCGGTGCA
NM_000466.3:c.2039_2051delinsCTGATGCGGTGCA MANE Select	NP_000457.1:p.Pro680=
NM_001282677.2:c.1900+1484_1900+1496delinsCTGATGCGGTGCA	NP_001269606.1:n.1900+1484_1900+1496delin...
NM_001282678.2:c.1415_1427delinsCTGATGCGGTGCA	NP_001269607.1:p.Pro472=