Canonical Allele Identifier: CA2580615782

Gene: PEX7

Linked Data

• ClinVar Variation Id: 1455239
• ClinVar RCV Id: RCV001942269
• dbSNP Id: rs2115216632

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866646_136866647del , CM000668.2:g.136866646_136866647del	GRCh38
NC_000006.11:g.137187784_137187785del , CM000668.1:g.137187784_137187785del	GRCh37
NC_000006.10:g.137229477_137229478del	NCBI36
NG_008462.1:g.49067_49068del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.546_547del MANE Select	ENSP00000315680.3:p.Ile182MetfsTer23
ENST00000541292.6:c.546_547del	ENSP00000441004.1:p.Ile182MetfsTer23
ENST00000678002.1:c.234_235del
ENST00000678557.1:c.432_433del	ENSP00000502962.1:p.Ile144MetfsTer23
ENST00000678593.1:c.551_552del	ENSP00000503841.1:n.551_552del
ENST00000679286.1:c.426_427del	ENSP00000503168.1:p.Ile142MetfsTer23
ENST00000318471.4:c.546_547del	ENSP00000315680.3:p.Ile182MetfsTer23
ENST00000541292.5:c.546_547del	ENSP00000441004.1:p.Ile182MetfsTer23
NM_000288.3:c.546_547del	NP_000279.1:p.Ile182MetfsTer23
XM_005267019.3:c.432_433del	XP_005267076.1:p.Ile144MetfsTer23
XM_006715502.1:c.340-3244_340-3243del	XP_006715565.1:n.340-3244_340-3243del
XM_011535900.1:c.526+20465_526+20466del	XP_011534202.1:n.526+20465_526+20466del
XM_005267019.4:c.432_433del	XP_005267076.1:p.Ile144MetfsTer23
XM_006715502.2:c.340-3244_340-3243del	XP_006715565.1:n.340-3244_340-3243del
XM_017010934.2:c.526+20465_526+20466del	XP_016866423.1:n.526+20465_526+20466del
NM_000288.4:c.546_547del MANE Select	NP_000279.1:p.Ile182MetfsTer23