Canonical Allele Identifier: CA2695207085

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898180del , CM000668.2:g.136898180del	GRCh38
NC_000006.11:g.137219318del , CM000668.1:g.137219318del	GRCh37
NC_000006.10:g.137261011del	NCBI36
NG_008462.1:g.80601del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.842del MANE Select	ENSP00000315680.3:p.Thr281LysfsTer12
ENST00000541292.6:c.*107del	ENSP00000441004.1:n.*107del
ENST00000678002.1:c.530del
ENST00000678557.1:c.728del	ENSP00000502962.1:p.Thr243LysfsTer12
ENST00000679286.1:c.722del	ENSP00000503168.1:p.Thr241LysfsTer12
ENST00000318471.4:c.842del	ENSP00000315680.3:p.Thr281LysfsTer12
NM_000288.3:c.842del	NP_000279.1:p.Thr281LysfsTer12
XM_005267019.3:c.728del	XP_005267076.1:p.Thr243LysfsTer12
XM_006715502.1:c.548del	XP_006715565.1:p.Thr183LysfsTer12
XM_011535900.1:c.565del	XP_011534202.1:p.Gln189SerfsTer?
XM_005267019.4:c.728del	XP_005267076.1:p.Thr243LysfsTer12
XM_006715502.2:c.548del	XP_006715565.1:p.Thr183LysfsTer12
XM_017010934.2:c.565del	XP_016866423.1:p.Gln189SerfsTer23
NM_000288.4:c.842del MANE Select	NP_000279.1:p.Thr281LysfsTer12