Canonical Allele Identifier: CA843848824
Gene: PEX1 HGNC NCBI

Linked Data

dbSNP Id: rs1159322678

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504701_92504705del , CM000669.2:g.92504701_92504705del GRCh38
NC_000007.13:g.92134015_92134019del , CM000669.1:g.92134015_92134019del GRCh37
NC_000007.12:g.91971951_91971955del NCBI36
NG_008341.1:g.28829_28833del
NG_008341.2:g.28829_28833del

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2071+29_2071+33del MANE Select ENSP00000248633.4:n.2071+29_2071+33del
ENST00000248633.8:c.2071+29_2071+33del ENSP00000248633.4:n.2071+29_2071+33del
ENST00000428214.5:c.1901-1508_1901-1504del ENSP00000394413.1:n.1901-1508_1901-1504de...
ENST00000438045.5:c.1105+29_1105+33del ENSP00000410438.1:n.1105+29_1105+33del
ENST00000484913.5:n.2110+29_2110+33del
ENST00000496420.5:n.1747+29_1747+33del
NM_000466.2:c.2071+29_2071+33del NP_000457.1:n.2071+29_2071+33del
NM_001282677.1:c.1901-1508_1901-1504del NP_001269606.1:n.1901-1508_1901-1504del
NM_001282678.1:c.1447+29_1447+33del NP_001269607.1:n.1447+29_1447+33del
XM_005250433.3:c.322+29_322+33del XP_005250490.1:n.322+29_322+33del
XR_242246.3:n.2167+29_2167+33del
XM_017012319.2:c.322+29_322+33del XP_016867808.1:n.322+29_322+33del
XR_001744808.2:n.1098+29_1098+33del
XR_242246.5:n.2118+29_2118+33del
NM_000466.3:c.2071+29_2071+33del MANE Select NP_000457.1:n.2071+29_2071+33del
NM_001282677.2:c.1901-1508_1901-1504del NP_001269606.1:n.1901-1508_1901-1504del
NM_001282678.2:c.1447+29_1447+33del NP_001269607.1:n.1447+29_1447+33del