Canonical Allele Identifier: CA819502894
Gene: PEX7 HGNC NCBI

Linked Data

dbSNP Id: rs1384879847

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136826259del , CM000668.2:g.136826259del GRCh38
NC_000006.11:g.137147397del , CM000668.1:g.137147397del GRCh37
NC_000006.10:g.137189090del NCBI36
NG_008462.1:g.8680del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.189-60del MANE Select ENSP00000315680.3:n.189-60del
ENST00000541292.6:c.189-60del ENSP00000441004.1:n.189-60del
ENST00000678002.1:c.59-55del
ENST00000678557.1:c.75-60del ENSP00000502962.1:n.75-60del
ENST00000678593.1:c.189-55del ENSP00000503841.1:n.189-55del
ENST00000679286.1:c.69-60del ENSP00000503168.1:n.69-60del
ENST00000318471.4:c.189-60del ENSP00000315680.3:n.189-60del
ENST00000367756.8:c.189-60del ENSP00000356730.4:n.189-60del
ENST00000541292.5:c.189-60del ENSP00000441004.1:n.189-60del
NM_000288.3:c.189-60del NP_000279.1:n.189-60del
XM_005267019.3:c.75-60del XP_005267076.1:n.75-60del
XM_006715502.1:c.189-60del XP_006715565.1:n.189-60del
XM_011535900.1:c.189-60del XP_011534202.1:n.189-60del
XM_005267019.4:c.75-60del XP_005267076.1:n.75-60del
XM_006715502.2:c.189-60del XP_006715565.1:n.189-60del
XM_017010934.2:c.189-60del XP_016866423.1:n.189-60del
NM_000288.4:c.189-60del MANE Select NP_000279.1:n.189-60del