Canonical Allele Identifier: CA843857625

Gene: PEX1

Linked Data

• dbSNP Id: rs1343678976
• gnomAD v3: 7-92517729-CTCT-C
• gnomAD v4: 7-92517729-CTCT-C
• MyVariant Identifiers: chr7:g.92147044_92147046del (hg19) ; chr7:g.92517730_92517732del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517731_92517733del , CM000669.2:g.92517731_92517733del	GRCh38
NC_000007.13:g.92147045_92147047del , CM000669.1:g.92147045_92147047del	GRCh37
NC_000007.12:g.91984981_91984983del	NCBI36
NG_008341.1:g.15800_15802del
NG_008341.2:g.15800_15802del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.783_785del MANE Select	ENSP00000248633.4:p.Glu262del
ENST00000248633.8:c.783_785del	ENSP00000248633.4:p.Glu262del
ENST00000428214.5:c.783_785del	ENSP00000394413.1:p.Glu262del
ENST00000438045.5:c.274-3765_274-3763del	ENSP00000410438.1:n.274-3765_274-3763del
ENST00000484913.5:n.822_824del
NM_000466.2:c.783_785del	NP_000457.1:p.Glu262del
NM_001282677.1:c.783_785del	NP_001269606.1:p.Glu262del
NM_001282678.1:c.159_161del	NP_001269607.1:p.Glu54del
XR_242246.3:n.879_881del
XR_242246.5:n.830_832del
NM_000466.3:c.783_785del MANE Select	NP_000457.1:p.Glu262del
NM_001282677.2:c.783_785del	NP_001269606.1:p.Glu262del
NM_001282678.2:c.159_161del	NP_001269607.1:p.Glu54del