Canonical Allele Identifier: CA4341385
Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 598436
ClinVar RCV Id: RCV000734822
dbSNP Id: rs766638581

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92511056_92511061del , CM000669.2:g.92511056_92511061del GRCh38
NC_000007.13:g.92140370_92140375del , CM000669.1:g.92140370_92140375del GRCh37
NC_000007.12:g.91978306_91978311del NCBI36
NG_008341.1:g.22474_22479del
NG_008341.2:g.22474_22479del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.1484-11_1484-6del MANE Select ENSP00000248633.4:n.1484-11_1484-6del
ENST00000248633.8:c.1484-11_1484-6del ENSP00000248633.4:n.1484-11_1484-6del
ENST00000422866.1:c.385-11_385-6del
ENST00000428214.5:c.1484-11_1484-6del ENSP00000394413.1:n.1484-11_1484-6del
ENST00000438045.5:c.518-11_518-6del ENSP00000410438.1:n.518-11_518-6del
ENST00000476923.1:n.245-11_245-6del
ENST00000484913.5:n.1523-11_1523-6del
NM_000466.2:c.1484-11_1484-6del NP_000457.1:n.1484-11_1484-6del
NM_001282677.1:c.1484-11_1484-6del NP_001269606.1:n.1484-11_1484-6del
NM_001282678.1:c.860-11_860-6del NP_001269607.1:n.860-11_860-6del
XM_005250433.3:c.-183-11_-183-6del XP_005250490.1:n.-183-11_-183-6del
XR_242246.3:n.1580-11_1580-6del
XM_017012319.2:c.-183-11_-183-6del XP_016867808.1:n.-183-11_-183-6del
XR_001744808.2:n.594-11_594-6del
XR_242246.5:n.1531-11_1531-6del
NM_000466.3:c.1484-11_1484-6del MANE Select NP_000457.1:n.1484-11_1484-6del
NM_001282677.2:c.1484-11_1484-6del NP_001269606.1:n.1484-11_1484-6del
NM_001282678.2:c.860-11_860-6del NP_001269607.1:n.860-11_860-6del