Canonical Allele Identifier: CA2683718792

Gene: PEX1

Linked Data

• gnomAD v4: 7-92504748-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504749del , CM000669.2:g.92504749del	GRCh38
NC_000007.13:g.92134063del , CM000669.1:g.92134063del	GRCh37
NC_000007.12:g.91971999del	NCBI36
NG_008341.1:g.28783del
NG_008341.2:g.28783del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2054del MANE Select	ENSP00000248633.4:p.Ser685ThrfsTer8
ENST00000248633.8:c.2054del	ENSP00000248633.4:p.Ser685ThrfsTer8
ENST00000428214.5:c.1900+1499del	ENSP00000394413.1:n.1900+1499del
ENST00000438045.5:c.1088del	ENSP00000410438.1:p.Ser363ThrfsTer8
ENST00000484913.5:n.2093del
ENST00000496420.5:n.1730del
NM_000466.2:c.2054del	NP_000457.1:p.Ser685ThrfsTer8
NM_001282677.1:c.1900+1499del	NP_001269606.1:n.1900+1499del
NM_001282678.1:c.1430del	NP_001269607.1:p.Ser477ThrfsTer8
XM_005250433.3:c.305del	XP_005250490.1:p.Ser102ThrfsTer8
XR_242246.3:n.2150del
XM_017012319.2:c.305del	XP_016867808.1:p.Ser102ThrfsTer8
XR_001744808.2:n.1081del
XR_242246.5:n.2101del
NM_000466.3:c.2054del MANE Select	NP_000457.1:p.Ser685ThrfsTer8
NM_001282677.2:c.1900+1499del	NP_001269606.1:n.1900+1499del
NM_001282678.2:c.1430del	NP_001269607.1:p.Ser477ThrfsTer8