Canonical Allele Identifier: CA2773216366
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136898387_136898391del , CM000668.2:g.136898387_136898391del GRCh38
NC_000006.11:g.137219525_137219529del , CM000668.1:g.137219525_137219529del GRCh37
NC_000006.10:g.137261218_137261222del NCBI36
NG_008462.1:g.80808_80812del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.903+146_903+150del MANE Select ENSP00000315680.3:n.903+146_903+150del
ENST00000541292.6:c.*168+146_*168+150del ENSP00000441004.1:n.*168+146_*168+150del
ENST00000678002.1:c.591+146_591+150del
ENST00000678557.1:c.789+146_789+150del ENSP00000502962.1:n.789+146_789+150del
ENST00000679286.1:c.783+146_783+150del ENSP00000503168.1:n.783+146_783+150del
ENST00000318471.4:c.903+146_903+150del ENSP00000315680.3:n.903+146_903+150del
NM_000288.3:c.903+146_903+150del NP_000279.1:n.903+146_903+150del
XM_005267019.3:c.789+146_789+150del XP_005267076.1:n.789+146_789+150del
XM_006715502.1:c.609+146_609+150del XP_006715565.1:n.609+146_609+150del
XM_005267019.4:c.789+146_789+150del XP_005267076.1:n.789+146_789+150del
XM_006715502.2:c.609+146_609+150del XP_006715565.1:n.609+146_609+150del
XM_017010934.2:c.*26+146_*26+150del XP_016866423.1:n.*26+146_*26+150del
NM_000288.4:c.903+146_903+150del MANE Select NP_000279.1:n.903+146_903+150del