Canonical Allele Identifier: CA16041156

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504770_92504771del , CM000669.2:g.92504770_92504771del	GRCh38
NC_000007.13:g.92134084_92134085del , CM000669.1:g.92134084_92134085del	GRCh37
NC_000007.12:g.91972020_91972021del	NCBI36
NG_008341.1:g.28763_28764del
NG_008341.2:g.28763_28764del

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.2034_2035del MANE Select	NP_000457.1:p.His678GlnfsTer3
ENST00000248633.9:c.2034_2035del MANE Select	ENSP00000248633.4:p.His678GlnfsTer3
NM_000466.2:c.2034_2035del	NP_000457.1:p.His678GlnfsTer3
NM_001282677.1:c.1900+1479_1900+1480del	NP_001269606.1:n.1900+1479_1900+1480del
NM_001282677.2:c.1900+1479_1900+1480del	NP_001269606.1:n.1900+1479_1900+1480del
NM_001282678.1:c.1410_1411del	NP_001269607.1:p.His470GlnfsTer3
NM_001282678.2:c.1410_1411del	NP_001269607.1:p.His470GlnfsTer3
ENST00000248633.8:c.2034_2035del	ENSP00000248633.4:p.His678GlnfsTer3
ENST00000428214.5:c.1900+1479_1900+1480del	ENSP00000394413.1:n.1900+1479_1900+1480del
ENST00000438045.5:c.1068_1069del	ENSP00000410438.1:p.His356GlnfsTer3
ENST00000484913.5:n.2073_2074del
ENST00000496420.5:n.1710_1711del
XM_005250433.3:c.285_286del	XP_005250490.1:p.His95GlnfsTer3
XM_017012319.2:c.285_286del	XP_016867808.1:p.His95GlnfsTer3
XR_001744808.2:n.1061_1062del
XR_242246.3:n.2130_2131del
XR_242246.5:n.2081_2082del