Canonical Allele Identifier: CA2683720492

Gene: PEX1

Linked Data

• gnomAD v4: 7-92510989-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510994del , CM000669.2:g.92510994del	GRCh38
NC_000007.13:g.92140308del , CM000669.1:g.92140308del	GRCh37
NC_000007.12:g.91978244del	NCBI36
NG_008341.1:g.22542del
NG_008341.2:g.22542del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1541del MANE Select	ENSP00000248633.4:p.Asn514IlefsTer5
ENST00000248633.8:c.1541del	ENSP00000248633.4:p.Asn514IlefsTer5
ENST00000422866.1:c.442del
ENST00000428214.5:c.1541del	ENSP00000394413.1:p.Asn514IlefsTer5
ENST00000438045.5:c.575del	ENSP00000410438.1:p.Asn192IlefsTer5
ENST00000476923.1:n.302del
ENST00000484913.5:n.1580del
NM_000466.2:c.1541del	NP_000457.1:p.Asn514IlefsTer5
NM_001282677.1:c.1541del	NP_001269606.1:p.Asn514IlefsTer5
NM_001282678.1:c.917del	NP_001269607.1:p.Asn306IlefsTer5
XM_005250433.3:c.-126del	XP_005250490.1:n.-126del
XR_242246.3:n.1637del
XM_017012319.2:c.-126del	XP_016867808.1:n.-126del
XR_001744808.2:n.651del
XR_242246.5:n.1588del
NM_000466.3:c.1541del MANE Select	NP_000457.1:p.Asn514IlefsTer5
NM_001282677.2:c.1541del	NP_001269606.1:p.Asn514IlefsTer5
NM_001282678.2:c.917del	NP_001269607.1:p.Asn306IlefsTer5