Canonical Allele Identifier: CA2695207086

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898202del , CM000668.2:g.136898202del	GRCh38
NC_000006.11:g.137219340del , CM000668.1:g.137219340del	GRCh37
NC_000006.10:g.137261033del	NCBI36
NG_008462.1:g.80623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.864del MANE Select	ENSP00000315680.3:p.Phe288LeufsTer5
ENST00000541292.6:c.*129del	ENSP00000441004.1:n.*129del
ENST00000678002.1:c.552del
ENST00000678557.1:c.750del	ENSP00000502962.1:p.Phe250LeufsTer5
ENST00000679286.1:c.744del	ENSP00000503168.1:p.Phe248LeufsTer5
ENST00000318471.4:c.864del	ENSP00000315680.3:p.Phe288LeufsTer5
NM_000288.3:c.864del	NP_000279.1:p.Phe288LeufsTer5
XM_005267019.3:c.750del	XP_005267076.1:p.Phe250LeufsTer5
XM_006715502.1:c.570del	XP_006715565.1:p.Phe190LeufsTer5
XM_011535900.1:c.587del	XP_011534202.1:p.Leu196TyrfsTer?
XM_005267019.4:c.750del	XP_005267076.1:p.Phe250LeufsTer5
XM_006715502.2:c.570del	XP_006715565.1:p.Phe190LeufsTer5
XM_017010934.2:c.587del	XP_016866423.1:p.Leu196TyrfsTer16
NM_000288.4:c.864del MANE Select	NP_000279.1:p.Phe288LeufsTer5