Canonical Allele Identifier: CA2776946756
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92506419_92506420del , CM000669.2:g.92506419_92506420del GRCh38
NC_000007.13:g.92135733_92135734del , CM000669.1:g.92135733_92135734del GRCh37
NC_000007.12:g.91973669_91973670del NCBI36
NG_008341.1:g.27112_27113del
NG_008341.2:g.27112_27113del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.1804-76_1804-75del MANE Select ENSP00000248633.4:n.1804-76_1804-75del
ENST00000248633.8:c.1804-76_1804-75del ENSP00000248633.4:n.1804-76_1804-75del
ENST00000422866.1:c.622-76_622-75del
ENST00000428214.5:c.1804-76_1804-75del ENSP00000394413.1:n.1804-76_1804-75del
ENST00000438045.5:c.838-76_838-75del ENSP00000410438.1:n.838-76_838-75del
ENST00000484913.5:n.1843-76_1843-75del
ENST00000496420.5:n.1404_1405del
NM_000466.2:c.1804-76_1804-75del NP_000457.1:n.1804-76_1804-75del
NM_001282677.1:c.1804-76_1804-75del NP_001269606.1:n.1804-76_1804-75del
NM_001282678.1:c.1180-76_1180-75del NP_001269607.1:n.1180-76_1180-75del
XM_005250433.3:c.55-76_55-75del XP_005250490.1:n.55-76_55-75del
XR_242246.3:n.1900-76_1900-75del
XM_017012319.2:c.55-76_55-75del XP_016867808.1:n.55-76_55-75del
XR_001744808.2:n.831-76_831-75del
XR_242246.5:n.1851-76_1851-75del
NM_000466.3:c.1804-76_1804-75del MANE Select NP_000457.1:n.1804-76_1804-75del
NM_001282677.2:c.1804-76_1804-75del NP_001269606.1:n.1804-76_1804-75del
NM_001282678.2:c.1180-76_1180-75del NP_001269607.1:n.1180-76_1180-75del