Canonical Allele Identifier: CA1725935138
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92499680_92499683delinsAAAG , CM000669.2:g.92499680_92499683delinsAAAG GRCh38
NC_000007.13:g.92128994_92128997delinsAAAG , CM000669.1:g.92128994_92128997delinsAAAG GRCh37
NC_000007.12:g.91966930_91966933delinsAAAG NCBI36
NG_008341.1:g.33849_33852delinsCTTT
NG_008341.2:g.33849_33852delinsCTTT

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2718+21_2718+24delinsCTTT MANE Select ENSP00000248633.4:n.2718+21_2718+24delins...
ENST00000248633.8:c.2718+21_2718+24delinsCTTT ENSP00000248633.4:n.2718+21_2718+24delins...
ENST00000428214.5:c.2547+21_2547+24delinsCTTT ENSP00000394413.1:n.2547+21_2547+24delins...
ENST00000438045.5:c.1752+21_1752+24delinsCTTT ENSP00000410438.1:n.1752+21_1752+24delins...
ENST00000484913.5:n.2757+21_2757+24delinsCTTT
ENST00000496420.5:n.2610+21_2610+24delinsCTTT
NM_000466.2:c.2718+21_2718+24delinsCTTT NP_000457.1:n.2718+21_2718+24delinsCTTT
NM_001282677.1:c.2547+21_2547+24delinsCTTT NP_001269606.1:n.2547+21_2547+24delinsCTT...
NM_001282678.1:c.2094+21_2094+24delinsCTTT NP_001269607.1:n.2094+21_2094+24delinsCTT...
XM_005250433.3:c.969+21_969+24delinsCTTT XP_005250490.1:n.969+21_969+24delinsCTTT
XR_242246.3:n.2814+21_2814+24delinsCTTT
XM_017012319.2:c.969+21_969+24delinsCTTT XP_016867808.1:n.969+21_969+24delinsCTTT
XR_001744808.2:n.1745+21_1745+24delinsCTTT
XR_242246.5:n.2765+21_2765+24delinsCTTT
NM_000466.3:c.2718+21_2718+24delinsCTTT MANE Select NP_000457.1:n.2718+21_2718+24delinsCTTT
NM_001282677.2:c.2547+21_2547+24delinsCTTT NP_001269606.1:n.2547+21_2547+24delinsCTT...
NM_001282678.2:c.2094+21_2094+24delinsCTTT NP_001269607.1:n.2094+21_2094+24delinsCTT...