Canonical Allele Identifier: CA2776946694
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92506387_92506389del , CM000669.2:g.92506387_92506389del GRCh38
NC_000007.13:g.92135701_92135703del , CM000669.1:g.92135701_92135703del GRCh37
NC_000007.12:g.91973637_91973639del NCBI36
NG_008341.1:g.27143_27145del
NG_008341.2:g.27143_27145del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.1804-45_1804-43del MANE Select ENSP00000248633.4:n.1804-45_1804-43del
ENST00000248633.8:c.1804-45_1804-43del ENSP00000248633.4:n.1804-45_1804-43del
ENST00000422866.1:c.622-45_622-43del
ENST00000428214.5:c.1804-45_1804-43del ENSP00000394413.1:n.1804-45_1804-43del
ENST00000438045.5:c.838-45_838-43del ENSP00000410438.1:n.838-45_838-43del
ENST00000484913.5:n.1843-45_1843-43del
ENST00000496420.5:n.1435_1437del
NM_000466.2:c.1804-45_1804-43del NP_000457.1:n.1804-45_1804-43del
NM_001282677.1:c.1804-45_1804-43del NP_001269606.1:n.1804-45_1804-43del
NM_001282678.1:c.1180-45_1180-43del NP_001269607.1:n.1180-45_1180-43del
XM_005250433.3:c.55-45_55-43del XP_005250490.1:n.55-45_55-43del
XR_242246.3:n.1900-45_1900-43del
XM_017012319.2:c.55-45_55-43del XP_016867808.1:n.55-45_55-43del
XR_001744808.2:n.831-45_831-43del
XR_242246.5:n.1851-45_1851-43del
NM_000466.3:c.1804-45_1804-43del MANE Select NP_000457.1:n.1804-45_1804-43del
NM_001282677.2:c.1804-45_1804-43del NP_001269606.1:n.1804-45_1804-43del
NM_001282678.2:c.1180-45_1180-43del NP_001269607.1:n.1180-45_1180-43del