Canonical Allele Identifier: CA2683720432

Gene: PEX1

Linked Data

• gnomAD v4: 7-92517753-G-GGAAAAAATGCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517754_92517765dup , CM000669.2:g.92517754_92517765dup	GRCh38
NC_000007.13:g.92147068_92147079dup , CM000669.1:g.92147068_92147079dup	GRCh37
NC_000007.12:g.91985004_91985015dup	NCBI36
NG_008341.1:g.15767_15778dup
NG_008341.2:g.15767_15778dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.750_761dup MANE Select	ENSP00000248633.4:p.Ser254_Phe255insSerIlePheSer
ENST00000248633.8:c.750_761dup	ENSP00000248633.4:p.Ser254_Phe255insSerIlePheSer
ENST00000428214.5:c.750_761dup	ENSP00000394413.1:p.Ser254_Phe255insSerIlePheSer
ENST00000438045.5:c.274-3798_274-3787dup	ENSP00000410438.1:n.274-3798_274-3787dup
ENST00000484913.5:n.789_800dup
NM_000466.2:c.750_761dup	NP_000457.1:p.Ser254_Phe255insSerIlePheSer
NM_001282677.1:c.750_761dup	NP_001269606.1:p.Ser254_Phe255insSerIlePheSer
NM_001282678.1:c.126_137dup	NP_001269607.1:p.Ser46_Phe47insSerIlePheSer
XR_242246.3:n.846_857dup
XR_242246.5:n.797_808dup
NM_000466.3:c.750_761dup MANE Select	NP_000457.1:p.Ser254_Phe255insSerIlePheSer
NM_001282677.2:c.750_761dup	NP_001269606.1:p.Ser254_Phe255insSerIlePheSer
NM_001282678.2:c.126_137dup	NP_001269607.1:p.Ser46_Phe47insSerIlePheSer