Canonical Allele Identifier: CA2683720491

Gene: PEX1

Linked Data

• gnomAD v4: 7-92510956-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510958del , CM000669.2:g.92510958del	GRCh38
NC_000007.13:g.92140272del , CM000669.1:g.92140272del	GRCh37
NC_000007.12:g.91978208del	NCBI36
NG_008341.1:g.22575del
NG_008341.2:g.22575del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1574del MANE Select	ENSP00000248633.4:p.Lys525ArgfsTer8
ENST00000248633.8:c.1574del	ENSP00000248633.4:p.Lys525ArgfsTer8
ENST00000422866.1:c.475del
ENST00000428214.5:c.1574del	ENSP00000394413.1:p.Lys525ArgfsTer8
ENST00000438045.5:c.608del	ENSP00000410438.1:p.Lys203ArgfsTer8
ENST00000476923.1:n.335del
ENST00000484913.5:n.1613del
NM_000466.2:c.1574del	NP_000457.1:p.Lys525ArgfsTer8
NM_001282677.1:c.1574del	NP_001269606.1:p.Lys525ArgfsTer8
NM_001282678.1:c.950del	NP_001269607.1:p.Lys317ArgfsTer8
XM_005250433.3:c.-93del	XP_005250490.1:n.-93del
XR_242246.3:n.1670del
XM_017012319.2:c.-93del	XP_016867808.1:n.-93del
XR_001744808.2:n.684del
XR_242246.5:n.1621del
NM_000466.3:c.1574del MANE Select	NP_000457.1:p.Lys525ArgfsTer8
NM_001282677.2:c.1574del	NP_001269606.1:p.Lys525ArgfsTer8
NM_001282678.2:c.950del	NP_001269607.1:p.Lys317ArgfsTer8