Canonical Allele Identifier: CA2580075089

Gene: PEX7

Linked Data

• ClinVar Variation Id: 1725811
• ClinVar RCV Id: RCV002309495

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826336del , CM000668.2:g.136826336del	GRCh38
NC_000006.11:g.137147474del , CM000668.1:g.137147474del	GRCh37
NC_000006.10:g.137189167del	NCBI36
NG_008462.1:g.8757del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.206del MANE Select	ENSP00000315680.3:p.Gly69ValfsTer5
ENST00000541292.6:c.206del	ENSP00000441004.1:p.Gly69ValfsTer5
ENST00000678002.1:c.81del
ENST00000678557.1:c.92del	ENSP00000502962.1:p.Gly31ValfsTer5
ENST00000678593.1:c.211del	ENSP00000503841.1:p.Val71PhefsTer3
ENST00000679286.1:c.86del	ENSP00000503168.1:p.Gly29ValfsTer5
ENST00000318471.4:c.206del	ENSP00000315680.3:p.Gly69ValfsTer5
ENST00000367756.8:c.206del	ENSP00000356730.4:p.Gly69ValfsTer5
ENST00000541292.5:c.206del	ENSP00000441004.1:p.Gly69ValfsTer5
NM_000288.3:c.206del	NP_000279.1:p.Gly69ValfsTer5
XM_005267019.3:c.92del	XP_005267076.1:p.Gly31ValfsTer5
XM_006715502.1:c.206del	XP_006715565.1:p.Gly69ValfsTer5
XM_011535900.1:c.206del	XP_011534202.1:p.Gly69ValfsTer5
XM_005267019.4:c.92del	XP_005267076.1:p.Gly31ValfsTer5
XM_006715502.2:c.206del	XP_006715565.1:p.Gly69ValfsTer5
XM_017010934.2:c.206del	XP_016866423.1:p.Gly69ValfsTer5
NM_000288.4:c.206del MANE Select	NP_000279.1:p.Gly69ValfsTer5