Canonical Allele Identifier: CA576309206

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1455751
• ClinVar RCV Id: RCV001970110 ; RCV003475227
• dbSNP Id: rs1275822594
• gnomAD v2: 7-92151419-TC-T
• gnomAD v4: 7-92522105-TC-T
• MyVariant Identifiers: chr7:g.92151420del (hg19) ; chr7:g.92522106del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522110del , CM000669.2:g.92522110del	GRCh38
NC_000007.13:g.92151424del , CM000669.1:g.92151424del	GRCh37
NC_000007.12:g.91989360del	NCBI36
NG_008341.1:g.11426del
NG_008341.2:g.11426del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.269del MANE Select	ENSP00000248633.4:p.Gly90AspfsTer?
ENST00000248633.8:c.269del	ENSP00000248633.4:p.Gly90AspfsTer?
ENST00000428214.5:c.269del	ENSP00000394413.1:p.Gly90AspfsTer?
ENST00000438045.5:c.269del	ENSP00000410438.1:p.Gly90AspfsTer7
ENST00000484913.5:n.273del
NM_000466.2:c.269del	NP_000457.1:p.Gly90AspfsTer?
NM_001282677.1:c.269del	NP_001269606.1:p.Gly90AspfsTer?
NM_001282678.1:c.-391del	NP_001269607.1:n.-391del
XR_242246.3:n.365del
XR_242246.5:n.316del
NM_000466.3:c.269del MANE Select	NP_000457.1:p.Gly90AspfsTer?
NM_001282677.2:c.269del	NP_001269606.1:p.Gly90AspfsTer?
NM_001282678.2:c.-391del	NP_001269607.1:n.-391del