Canonical Allele Identifier: CA576306604
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs1288042795

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92511075_92511076del , CM000669.2:g.92511075_92511076del GRCh38
NC_000007.13:g.92140389_92140390del , CM000669.1:g.92140389_92140390del GRCh37
NC_000007.12:g.91978325_91978326del NCBI36
NG_008341.1:g.22458_22459del
NG_008341.2:g.22458_22459del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.1484-27_1484-26del MANE Select ENSP00000248633.4:n.1484-27_1484-26del
ENST00000248633.8:c.1484-27_1484-26del ENSP00000248633.4:n.1484-27_1484-26del
ENST00000422866.1:c.385-27_385-26del
ENST00000428214.5:c.1484-27_1484-26del ENSP00000394413.1:n.1484-27_1484-26del
ENST00000438045.5:c.518-27_518-26del ENSP00000410438.1:n.518-27_518-26del
ENST00000476923.1:n.245-27_245-26del
ENST00000484913.5:n.1523-27_1523-26del
NM_000466.2:c.1484-27_1484-26del NP_000457.1:n.1484-27_1484-26del
NM_001282677.1:c.1484-27_1484-26del NP_001269606.1:n.1484-27_1484-26del
NM_001282678.1:c.860-27_860-26del NP_001269607.1:n.860-27_860-26del
XM_005250433.3:c.-183-27_-183-26del XP_005250490.1:n.-183-27_-183-26del
XR_242246.3:n.1580-27_1580-26del
XM_017012319.2:c.-183-27_-183-26del XP_016867808.1:n.-183-27_-183-26del
XR_001744808.2:n.594-27_594-26del
XR_242246.5:n.1531-27_1531-26del
NM_000466.3:c.1484-27_1484-26del MANE Select NP_000457.1:n.1484-27_1484-26del
NM_001282677.2:c.1484-27_1484-26del NP_001269606.1:n.1484-27_1484-26del
NM_001282678.2:c.860-27_860-26del NP_001269607.1:n.860-27_860-26del