Canonical Allele Identifier: CA2776946658
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92506346_92506354del , CM000669.2:g.92506346_92506354del GRCh38
NC_000007.13:g.92135660_92135668del , CM000669.1:g.92135660_92135668del GRCh37
NC_000007.12:g.91973596_91973604del NCBI36
NG_008341.1:g.27178_27186del
NG_008341.2:g.27178_27186del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.1804-10_1804-2del MANE Select ENSP00000248633.4:n.1804-10_1804-2del
ENST00000248633.8:c.1804-10_1804-2del ENSP00000248633.4:n.1804-10_1804-2del
ENST00000422866.1:c.622-10_622-2del
ENST00000428214.5:c.1804-10_1804-2del ENSP00000394413.1:n.1804-10_1804-2del
ENST00000438045.5:c.838-10_838-2del ENSP00000410438.1:n.838-10_838-2del
ENST00000484913.5:n.1843-10_1843-2del
ENST00000496420.5:n.1470_1478del
NM_000466.2:c.1804-10_1804-2del NP_000457.1:n.1804-10_1804-2del
NM_001282677.1:c.1804-10_1804-2del NP_001269606.1:n.1804-10_1804-2del
NM_001282678.1:c.1180-10_1180-2del NP_001269607.1:n.1180-10_1180-2del
XM_005250433.3:c.55-10_55-2del XP_005250490.1:n.55-10_55-2del
XR_242246.3:n.1900-10_1900-2del
XM_017012319.2:c.55-10_55-2del XP_016867808.1:n.55-10_55-2del
XR_001744808.2:n.831-10_831-2del
XR_242246.5:n.1851-10_1851-2del
NM_000466.3:c.1804-10_1804-2del MANE Select NP_000457.1:n.1804-10_1804-2del
NM_001282677.2:c.1804-10_1804-2del NP_001269606.1:n.1804-10_1804-2del
NM_001282678.2:c.1180-10_1180-2del NP_001269607.1:n.1180-10_1180-2del