Canonical Allele Identifier: CA2580075094

Gene: PEX7

Linked Data

• ClinVar Variation Id: 1723922
• ClinVar RCV Id: RCV002306477

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826453_136826454del , CM000668.2:g.136826453_136826454del	GRCh38
NC_000006.11:g.137147591_137147592del , CM000668.1:g.137147591_137147592del	GRCh37
NC_000006.10:g.137189284_137189285del	NCBI36
NG_008462.1:g.8874_8875del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.323_324del MANE Select	ENSP00000315680.3:p.Lys108ArgfsTer8
ENST00000541292.6:c.323_324del	ENSP00000441004.1:p.Lys108ArgfsTer8
ENST00000678002.1:c.198_199del
ENST00000678557.1:c.209_210del	ENSP00000502962.1:p.Lys70ArgfsTer8
ENST00000678593.1:c.328_329del	ENSP00000503841.1:n.328_329del
ENST00000679286.1:c.203_204del	ENSP00000503168.1:p.Lys68ArgfsTer8
ENST00000318471.4:c.323_324del	ENSP00000315680.3:p.Lys108ArgfsTer8
ENST00000367756.8:c.323_324del	ENSP00000356730.4:p.Lys108ArgfsTer?
ENST00000541292.5:c.323_324del	ENSP00000441004.1:p.Lys108ArgfsTer8
NM_000288.3:c.323_324del	NP_000279.1:p.Lys108ArgfsTer8
XM_005267019.3:c.209_210del	XP_005267076.1:p.Lys70ArgfsTer8
XM_006715502.1:c.323_324del	XP_006715565.1:p.Lys108ArgfsTer14
XM_011535900.1:c.323_324del	XP_011534202.1:p.Lys108ArgfsTer8
XM_005267019.4:c.209_210del	XP_005267076.1:p.Lys70ArgfsTer8
XM_006715502.2:c.323_324del	XP_006715565.1:p.Lys108ArgfsTer14
XM_017010934.2:c.323_324del	XP_016866423.1:p.Lys108ArgfsTer8
NM_000288.4:c.323_324del MANE Select	NP_000279.1:p.Lys108ArgfsTer8