Canonical Allele Identifier: CA819502693
Gene: PEX7 HGNC NCBI

Linked Data

dbSNP Id: rs1491439775

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136826048_136826049del , CM000668.2:g.136826048_136826049del GRCh38
NC_000006.11:g.137147186_137147187del , CM000668.1:g.137147186_137147187del GRCh37
NC_000006.10:g.137188879_137188880del NCBI36
NG_008462.1:g.8469_8470del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.189-271_189-270del MANE Select ENSP00000315680.3:n.189-271_189-270del
ENST00000541292.6:c.189-271_189-270del ENSP00000441004.1:n.189-271_189-270del
ENST00000678002.1:c.59-266_59-265del
ENST00000678557.1:c.75-271_75-270del ENSP00000502962.1:n.75-271_75-270del
ENST00000678593.1:c.189-266_189-265del ENSP00000503841.1:n.189-266_189-265del
ENST00000679286.1:c.69-271_69-270del ENSP00000503168.1:n.69-271_69-270del
ENST00000318471.4:c.189-271_189-270del ENSP00000315680.3:n.189-271_189-270del
ENST00000367756.8:c.189-271_189-270del ENSP00000356730.4:n.189-271_189-270del
ENST00000541292.5:c.189-271_189-270del ENSP00000441004.1:n.189-271_189-270del
NM_000288.3:c.189-271_189-270del NP_000279.1:n.189-271_189-270del
XM_005267019.3:c.75-271_75-270del XP_005267076.1:n.75-271_75-270del
XM_006715502.1:c.189-271_189-270del XP_006715565.1:n.189-271_189-270del
XM_011535900.1:c.189-271_189-270del XP_011534202.1:n.189-271_189-270del
XM_005267019.4:c.75-271_75-270del XP_005267076.1:n.75-271_75-270del
XM_006715502.2:c.189-271_189-270del XP_006715565.1:n.189-271_189-270del
XM_017010934.2:c.189-271_189-270del XP_016866423.1:n.189-271_189-270del
NM_000288.4:c.189-271_189-270del MANE Select NP_000279.1:n.189-271_189-270del