Canonical Allele Identifier: CA4341045
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs748303913

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92499679_92499682del , CM000669.2:g.92499679_92499682del GRCh38
NC_000007.13:g.92128993_92128996del , CM000669.1:g.92128993_92128996del GRCh37
NC_000007.12:g.91966929_91966932del NCBI36
NG_008341.1:g.33853_33856del
NG_008341.2:g.33853_33856del

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2718+25_2718+28del MANE Select ENSP00000248633.4:n.2718+25_2718+28del
ENST00000248633.8:c.2718+25_2718+28del ENSP00000248633.4:n.2718+25_2718+28del
ENST00000428214.5:c.2547+25_2547+28del ENSP00000394413.1:n.2547+25_2547+28del
ENST00000438045.5:c.1752+25_1752+28del ENSP00000410438.1:n.1752+25_1752+28del
ENST00000484913.5:n.2757+25_2757+28del
ENST00000496420.5:n.2610+25_2610+28del
NM_000466.2:c.2718+25_2718+28del NP_000457.1:n.2718+25_2718+28del
NM_001282677.1:c.2547+25_2547+28del NP_001269606.1:n.2547+25_2547+28del
NM_001282678.1:c.2094+25_2094+28del NP_001269607.1:n.2094+25_2094+28del
XM_005250433.3:c.969+25_969+28del XP_005250490.1:n.969+25_969+28del
XR_242246.3:n.2814+25_2814+28del
XM_017012319.2:c.969+25_969+28del XP_016867808.1:n.969+25_969+28del
XR_001744808.2:n.1745+25_1745+28del
XR_242246.5:n.2765+25_2765+28del
NM_000466.3:c.2718+25_2718+28del MANE Select NP_000457.1:n.2718+25_2718+28del
NM_001282677.2:c.2547+25_2547+28del NP_001269606.1:n.2547+25_2547+28del
NM_001282678.2:c.2094+25_2094+28del NP_001269607.1:n.2094+25_2094+28del