Canonical Allele Identifier: CA2776946755
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92506417_92506421del , CM000669.2:g.92506417_92506421del GRCh38
NC_000007.13:g.92135731_92135735del , CM000669.1:g.92135731_92135735del GRCh37
NC_000007.12:g.91973667_91973671del NCBI36
NG_008341.1:g.27111_27115del
NG_008341.2:g.27111_27115del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.1804-77_1804-73del MANE Select ENSP00000248633.4:n.1804-77_1804-73del
ENST00000248633.8:c.1804-77_1804-73del ENSP00000248633.4:n.1804-77_1804-73del
ENST00000422866.1:c.622-77_622-73del
ENST00000428214.5:c.1804-77_1804-73del ENSP00000394413.1:n.1804-77_1804-73del
ENST00000438045.5:c.838-77_838-73del ENSP00000410438.1:n.838-77_838-73del
ENST00000484913.5:n.1843-77_1843-73del
ENST00000496420.5:n.1403_1407del
NM_000466.2:c.1804-77_1804-73del NP_000457.1:n.1804-77_1804-73del
NM_001282677.1:c.1804-77_1804-73del NP_001269606.1:n.1804-77_1804-73del
NM_001282678.1:c.1180-77_1180-73del NP_001269607.1:n.1180-77_1180-73del
XM_005250433.3:c.55-77_55-73del XP_005250490.1:n.55-77_55-73del
XR_242246.3:n.1900-77_1900-73del
XM_017012319.2:c.55-77_55-73del XP_016867808.1:n.55-77_55-73del
XR_001744808.2:n.831-77_831-73del
XR_242246.5:n.1851-77_1851-73del
NM_000466.3:c.1804-77_1804-73del MANE Select NP_000457.1:n.1804-77_1804-73del
NM_001282677.2:c.1804-77_1804-73del NP_001269606.1:n.1804-77_1804-73del
NM_001282678.2:c.1180-77_1180-73del NP_001269607.1:n.1180-77_1180-73del