Canonical Allele Identifier: CA2683718796

Gene: PEX1

Linked Data

• gnomAD v4: 7-92504767-CTGTGCTCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504771_92504778del , CM000669.2:g.92504771_92504778del	GRCh38
NC_000007.13:g.92134085_92134092del , CM000669.1:g.92134085_92134092del	GRCh37
NC_000007.12:g.91972021_91972028del	NCBI36
NG_008341.1:g.28757_28764del
NG_008341.2:g.28757_28764del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2028_2035del MANE Select	ENSP00000248633.4:p.His676GlnfsTer3
ENST00000248633.8:c.2028_2035del	ENSP00000248633.4:p.His676GlnfsTer3
ENST00000428214.5:c.1900+1473_1900+1480del	ENSP00000394413.1:n.1900+1473_1900+1480de...
ENST00000438045.5:c.1062_1069del	ENSP00000410438.1:p.His354GlnfsTer3
ENST00000484913.5:n.2067_2074del
ENST00000496420.5:n.1704_1711del
NM_000466.2:c.2028_2035del	NP_000457.1:p.His676GlnfsTer3
NM_001282677.1:c.1900+1473_1900+1480del	NP_001269606.1:n.1900+1473_1900+1480del
NM_001282678.1:c.1404_1411del	NP_001269607.1:p.His468GlnfsTer3
XM_005250433.3:c.279_286del	XP_005250490.1:p.His93GlnfsTer3
XR_242246.3:n.2124_2131del
XM_017012319.2:c.279_286del	XP_016867808.1:p.His93GlnfsTer3
XR_001744808.2:n.1055_1062del
XR_242246.5:n.2075_2082del
NM_000466.3:c.2028_2035del MANE Select	NP_000457.1:p.His676GlnfsTer3
NM_001282677.2:c.1900+1473_1900+1480del	NP_001269606.1:n.1900+1473_1900+1480del
NM_001282678.2:c.1404_1411del	NP_001269607.1:p.His468GlnfsTer3