Canonical Allele Identifier: CA2580075139

Gene: PEX7

Linked Data

• ClinVar Variation Id: 2074726
• ClinVar RCV Id: RCV002982298
• gnomAD v4: 6-136869904-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136869908del , CM000668.2:g.136869908del	GRCh38
NC_000006.11:g.137191046del , CM000668.1:g.137191046del	GRCh37
NC_000006.10:g.137232739del	NCBI36
NG_008462.1:g.52329del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.652del MANE Select	ENSP00000315680.3:p.Ala218ArgfsTer6
ENST00000541292.6:c.652del	ENSP00000441004.1:p.Ala218ArgfsTer6
ENST00000678002.1:c.340del
ENST00000678557.1:c.538del	ENSP00000502962.1:p.Ala180ArgfsTer6
ENST00000678593.1:c.657del	ENSP00000503841.1:n.657del
ENST00000679286.1:c.532del	ENSP00000503168.1:p.Ala178ArgfsTer6
ENST00000318471.4:c.652del	ENSP00000315680.3:p.Ala218ArgfsTer6
ENST00000541292.5:c.652del	ENSP00000441004.1:p.Ala218ArgfsTer6
NM_000288.3:c.652del	NP_000279.1:p.Ala218ArgfsTer6
XM_005267019.3:c.538del	XP_005267076.1:p.Ala180ArgfsTer6
XM_006715502.1:c.358del	XP_006715565.1:p.Ala120ArgfsTer6
XM_011535900.1:c.526+23727del	XP_011534202.1:n.526+23727del
XM_005267019.4:c.538del	XP_005267076.1:p.Ala180ArgfsTer6
XM_006715502.2:c.358del	XP_006715565.1:p.Ala120ArgfsTer6
XM_017010934.2:c.526+23727del	XP_016866423.1:n.526+23727del
NM_000288.4:c.652del MANE Select	NP_000279.1:p.Ala218ArgfsTer6