Canonical Allele Identifier: CA576706627

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1457173
• ClinVar RCV Id: RCV001953622 ; RCV003475234
• dbSNP Id: rs1376037318
• gnomAD v2: 7-92146620-AT-A
• gnomAD v4: 7-92517306-AT-A
• MyVariant Identifiers: chr7:g.92146621del (hg19) ; chr7:g.92517307del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517311del , CM000669.2:g.92517311del	GRCh38
NC_000007.13:g.92146625del , CM000669.1:g.92146625del	GRCh37
NC_000007.12:g.91984561del	NCBI36
NG_008341.1:g.16225del
NG_008341.2:g.16225del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1208del MANE Select	ENSP00000248633.4:p.Asn403MetfsTer2
ENST00000248633.8:c.1208del	ENSP00000248633.4:p.Asn403MetfsTer2
ENST00000422866.1:c.109del
ENST00000428214.5:c.1208del	ENSP00000394413.1:p.Asn403MetfsTer2
ENST00000438045.5:c.274-3340del	ENSP00000410438.1:n.274-3340del
ENST00000484913.5:n.1247del
NM_000466.2:c.1208del	NP_000457.1:p.Asn403MetfsTer2
NM_001282677.1:c.1208del	NP_001269606.1:p.Asn403MetfsTer2
NM_001282678.1:c.584del	NP_001269607.1:p.Asn195MetfsTer2
XR_242246.3:n.1304del
XM_017012319.2:c.-459del	XP_016867808.1:n.-459del
XR_001744808.2:n.318del
XR_242246.5:n.1255del
NM_000466.3:c.1208del MANE Select	NP_000457.1:p.Asn403MetfsTer2
NM_001282677.2:c.1208del	NP_001269606.1:p.Asn403MetfsTer2
NM_001282678.2:c.584del	NP_001269607.1:p.Asn195MetfsTer2