Canonical Allele Identifier: CA161973661

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1098755
• ClinVar RCV Id: RCV001420758 ; RCV001831471
• dbSNP Id: rs61750404
• gnomAD v4: 7-92517725-ATG-A
• MyVariant Identifiers: chr7:g.92147040_92147041del (hg19) ; chr7:g.92517726_92517727del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517727_92517728del , CM000669.2:g.92517727_92517728del	GRCh38
NC_000007.13:g.92147041_92147042del , CM000669.1:g.92147041_92147042del	GRCh37
NC_000007.12:g.91984977_91984978del	NCBI36
NG_008341.1:g.15805_15806del
NG_008341.2:g.15805_15806del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.788_789del MANE Select	ENSP00000248633.4:p.Thr263IlefsTer6
ENST00000248633.8:c.788_789del	ENSP00000248633.4:p.Thr263IlefsTer6
ENST00000428214.5:c.788_789del	ENSP00000394413.1:p.Thr263IlefsTer6
ENST00000438045.5:c.274-3760_274-3759del	ENSP00000410438.1:n.274-3760_274-3759del
ENST00000484913.5:n.827_828del
NM_000466.2:c.788_789del	NP_000457.1:p.Thr263IlefsTer6
NM_001282677.1:c.788_789del	NP_001269606.1:p.Thr263IlefsTer6
NM_001282678.1:c.164_165del	NP_001269607.1:p.Thr55IlefsTer6
XR_242246.3:n.884_885del
XR_242246.5:n.835_836del
NM_000466.3:c.788_789del MANE Select	NP_000457.1:p.Thr263IlefsTer6
NM_001282677.2:c.788_789del	NP_001269606.1:p.Thr263IlefsTer6
NM_001282678.2:c.164_165del	NP_001269607.1:p.Thr55IlefsTer6