Canonical Allele Identifier: CA2683718127
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92496778del , CM000669.2:g.92496778del GRCh38
NC_000007.13:g.92126092del , CM000669.1:g.92126092del GRCh37
NC_000007.12:g.91964028del NCBI36
NG_008341.1:g.36757del
NG_008341.2:g.36757del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2721del
ENST00000248633.8:c.2721del
ENST00000428214.5:c.2550del
ENST00000438045.5:c.1755del
ENST00000484913.5:n.2760del
ENST00000496420.5:n.2613del
NM_000466.2:c.2721del
NM_001282677.1:c.2550del
NM_001282678.1:c.2097del
XM_005250433.3:c.972del
XR_242246.3:n.2817del
XM_017012319.2:c.972del
XR_001744808.2:n.1748del
XR_242246.5:n.2768del
NM_000466.3:c.2721del
NM_001282677.2:c.2550del
NM_001282678.2:c.2097del