Canonical Allele Identifier: CA16041169
Gene: PEX1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371725
dbSNP Id: rs1057517488

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92517443_92517444del , CM000669.2:g.92517443_92517444del GRCh38
NC_000007.13:g.92146757_92146758del , CM000669.1:g.92146757_92146758del GRCh37
NC_000007.12:g.91984693_91984694del NCBI36
NG_008341.1:g.16091_16092del
NG_008341.2:g.16091_16092del

Transcript Alleles

HGVS Amino-acid change
NM_000466.2:c.1074_1075del VV NP_000457.1:p.Lys359AlafsTer12
NM_001282677.1:c.1074_1075del VV NP_001269606.1:p.Lys359AlafsTer12
NM_001282678.1:c.450_451del VV NP_001269607.1:p.Lys151AlafsTer12
XR_242246.3:n.1170_1171del
XM_017012319.2:c.-593_-592del XP_016867808.1:p.=
XR_001744808.2:n.184_185del
XR_242246.5:n.1121_1122del
NM_000466.3:c.1074_1075del VV MANE Preferred NP_000457.1:p.Lys359AlafsTer12
ENST00000248633.8:c.1074_1075del ENSP00000248633.4:p.Lys359AlafsTer12
ENST00000428214.5:n.1074_1075del ENSP00000394413.1:p.Lys359AlafsTer12
ENST00000438045.5:c.274-3474_274-3473del ENSP00000410438.1:p.=
ENST00000484913.5:n.1113_1114del