Canonical Allele Identifier: CA274288

Gene: PEX1

Linked Data

• ClinVar Variation Id: 189029
• ClinVar RCV Id: RCV000169419 ; RCV003474913 ; RCV002516532
• dbSNP Id: rs786204638
• gnomAD v4: 7-92517602-CAG-C
• MyVariant Identifiers: chr7:g.92146917_92146918del (hg19) ; chr7:g.92517603_92517604del (hg38)
• PubMed: PMID:16141001 ; PMID:21031596

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517605_92517606del , CM000669.2:g.92517605_92517606del	GRCh38
NC_000007.13:g.92146919_92146920del , CM000669.1:g.92146919_92146920del	GRCh37
NC_000007.12:g.91984855_91984856del	NCBI36
NG_008341.1:g.15928_15929del
NG_008341.2:g.15928_15929del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.911_912del MANE Select	ENSP00000248633.4:p.Ser304CysfsTer4
ENST00000248633.8:c.911_912del	ENSP00000248633.4:p.Ser304CysfsTer4
ENST00000428214.5:c.911_912del	ENSP00000394413.1:p.Ser304CysfsTer4
ENST00000438045.5:c.274-3637_274-3636del	ENSP00000410438.1:n.274-3637_274-3636del
ENST00000484913.5:n.950_951del
NM_000466.2:c.911_912del	NP_000457.1:p.Ser304CysfsTer4
NM_001282677.1:c.911_912del	NP_001269606.1:p.Ser304CysfsTer4
NM_001282678.1:c.287_288del	NP_001269607.1:p.Ser96CysfsTer4
XR_242246.3:n.1007_1008del
XM_017012319.2:c.-756_-755del	XP_016867808.1:n.-756_-755del
XR_001744808.2:n.21_22del
XR_242246.5:n.958_959del
NM_000466.3:c.911_912del MANE Select	NP_000457.1:p.Ser304CysfsTer4
NM_001282677.2:c.911_912del	NP_001269606.1:p.Ser304CysfsTer4
NM_001282678.2:c.287_288del	NP_001269607.1:p.Ser96CysfsTer4