Canonical Allele Identifier: CA2773216300

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898227del , CM000668.2:g.136898227del	GRCh38
NC_000006.11:g.137219365del , CM000668.1:g.137219365del	GRCh37
NC_000006.10:g.137261058del	NCBI36
NG_008462.1:g.80648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.889del MANE Select	ENSP00000315680.3:p.Gln297ArgfsTer15
ENST00000541292.6:c.*154del	ENSP00000441004.1:n.*154del
ENST00000678002.1:c.577del
ENST00000678557.1:c.775del	ENSP00000502962.1:p.Gln259ArgfsTer15
ENST00000679286.1:c.769del	ENSP00000503168.1:p.Gln257ArgfsTer15
ENST00000318471.4:c.889del	ENSP00000315680.3:p.Gln297ArgfsTer15
NM_000288.3:c.889del	NP_000279.1:p.Gln297ArgfsTer15
XM_005267019.3:c.775del	XP_005267076.1:p.Gln259ArgfsTer15
XM_006715502.1:c.595del	XP_006715565.1:p.Gln199ArgfsTer15
XM_005267019.4:c.775del	XP_005267076.1:p.Gln259ArgfsTer15
XM_006715502.2:c.595del	XP_006715565.1:p.Gln199ArgfsTer15
XM_017010934.2:c.*12del	XP_016866423.1:n.*12del
NM_000288.4:c.889del MANE Select	NP_000279.1:p.Gln297ArgfsTer15