Canonical Allele Identifier: CA2683721364

Gene: PEX1

Linked Data

• gnomAD v4: 7-92522180-ATGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522186_92522189del , CM000669.2:g.92522186_92522189del	GRCh38
NC_000007.13:g.92151500_92151503del , CM000669.1:g.92151500_92151503del	GRCh37
NC_000007.12:g.91989436_91989439del	NCBI36
NG_008341.1:g.11348_11351del
NG_008341.2:g.11348_11351del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.191_194del MANE Select	ENSP00000248633.4:p.Arg64IlefsTer?
ENST00000248633.8:c.191_194del	ENSP00000248633.4:p.Arg64IlefsTer?
ENST00000428214.5:c.191_194del	ENSP00000394413.1:p.Arg64IlefsTer?
ENST00000438045.5:c.191_194del	ENSP00000410438.1:p.Arg64IlefsTer?
ENST00000484913.5:n.195_198del
NM_000466.2:c.191_194del	NP_000457.1:p.Arg64IlefsTer?
NM_001282677.1:c.191_194del	NP_001269606.1:p.Arg64IlefsTer?
NM_001282678.1:c.-469_-466del	NP_001269607.1:n.-469_-466del
XR_242246.3:n.287_290del
XR_242246.5:n.238_241del
NM_000466.3:c.191_194del MANE Select	NP_000457.1:p.Arg64IlefsTer?
NM_001282677.2:c.191_194del	NP_001269606.1:p.Arg64IlefsTer?
NM_001282678.2:c.-469_-466del	NP_001269607.1:n.-469_-466del