Canonical Allele Identifier: CA1725935140
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92499687_92499691delinsATAAG , CM000669.2:g.92499687_92499691delinsATAAG GRCh38
NC_000007.13:g.92129001_92129005delinsATAAG , CM000669.1:g.92129001_92129005delinsATAAG GRCh37
NC_000007.12:g.91966937_91966941delinsATAAG NCBI36
NG_008341.1:g.33841_33845delinsCTTAT
NG_008341.2:g.33841_33845delinsCTTAT

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2718+13_2718+17delinsCTTAT MANE Select ENSP00000248633.4:n.2718+13_2718+17delins...
ENST00000248633.8:c.2718+13_2718+17delinsCTTAT ENSP00000248633.4:n.2718+13_2718+17delins...
ENST00000428214.5:c.2547+13_2547+17delinsCTTAT ENSP00000394413.1:n.2547+13_2547+17delins...
ENST00000438045.5:c.1752+13_1752+17delinsCTTAT ENSP00000410438.1:n.1752+13_1752+17delins...
ENST00000484913.5:n.2757+13_2757+17delinsCTTAT
ENST00000496420.5:n.2610+13_2610+17delinsCTTAT
NM_000466.2:c.2718+13_2718+17delinsCTTAT NP_000457.1:n.2718+13_2718+17delinsCTTAT
NM_001282677.1:c.2547+13_2547+17delinsCTTAT NP_001269606.1:n.2547+13_2547+17delinsCTT...
NM_001282678.1:c.2094+13_2094+17delinsCTTAT NP_001269607.1:n.2094+13_2094+17delinsCTT...
XM_005250433.3:c.969+13_969+17delinsCTTAT XP_005250490.1:n.969+13_969+17delinsCTTAT...
XR_242246.3:n.2814+13_2814+17delinsCTTAT
XM_017012319.2:c.969+13_969+17delinsCTTAT XP_016867808.1:n.969+13_969+17delinsCTTAT...
XR_001744808.2:n.1745+13_1745+17delinsCTTAT
XR_242246.5:n.2765+13_2765+17delinsCTTAT
NM_000466.3:c.2718+13_2718+17delinsCTTAT MANE Select NP_000457.1:n.2718+13_2718+17delinsCTTAT
NM_001282677.2:c.2547+13_2547+17delinsCTTAT NP_001269606.1:n.2547+13_2547+17delinsCTT...
NM_001282678.2:c.2094+13_2094+17delinsCTTAT NP_001269607.1:n.2094+13_2094+17delinsCTT...