Canonical Allele Identifier: CA2683719164

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506336-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506338del , CM000669.2:g.92506338del	GRCh38
NC_000007.13:g.92135652del , CM000669.1:g.92135652del	GRCh37
NC_000007.12:g.91973588del	NCBI36
NG_008341.1:g.27195del
NG_008341.2:g.27195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1811del MANE Select	ENSP00000248633.4:p.Gly604GlufsTer5
ENST00000248633.8:c.1811del	ENSP00000248633.4:p.Gly604GlufsTer5
ENST00000422866.1:c.629del
ENST00000428214.5:c.1811del	ENSP00000394413.1:p.Gly604GlufsTer5
ENST00000438045.5:c.845del	ENSP00000410438.1:p.Gly282GlufsTer5
ENST00000484913.5:n.1850del
ENST00000496420.5:n.1487del
NM_000466.2:c.1811del	NP_000457.1:p.Gly604GlufsTer5
NM_001282677.1:c.1811del	NP_001269606.1:p.Gly604GlufsTer5
NM_001282678.1:c.1187del	NP_001269607.1:p.Gly396GlufsTer5
XM_005250433.3:c.62del	XP_005250490.1:p.Gly21GlufsTer5
XR_242246.3:n.1907del
XM_017012319.2:c.62del	XP_016867808.1:p.Gly21GlufsTer5
XR_001744808.2:n.838del
XR_242246.5:n.1858del
NM_000466.3:c.1811del MANE Select	NP_000457.1:p.Gly604GlufsTer5
NM_001282677.2:c.1811del	NP_001269606.1:p.Gly604GlufsTer5
NM_001282678.2:c.1187del	NP_001269607.1:p.Gly396GlufsTer5