Canonical Allele Identifier: CA2580075090

Gene: PEX7

Linked Data

• ClinVar Variation Id: 2117483
• ClinVar RCV Id: RCV003027768
• dbSNP Id: rs2115131935
• gnomAD v4: 6-136826379-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826380dup , CM000668.2:g.136826380dup	GRCh38
NC_000006.11:g.137147518dup , CM000668.1:g.137147518dup	GRCh37
NC_000006.10:g.137189211dup	NCBI36
NG_008462.1:g.8801dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.250dup MANE Select	ENSP00000315680.3:p.Ile84AsnfsTer4
ENST00000541292.6:c.250dup	ENSP00000441004.1:p.Ile84AsnfsTer4
ENST00000678002.1:c.125dup
ENST00000678557.1:c.136dup	ENSP00000502962.1:p.Ile46AsnfsTer4
ENST00000678593.1:c.255dup	ENSP00000503841.1:n.255dup
ENST00000679286.1:c.130dup	ENSP00000503168.1:p.Ile44AsnfsTer4
ENST00000318471.4:c.250dup	ENSP00000315680.3:p.Ile84AsnfsTer4
ENST00000367756.8:c.250dup	ENSP00000356730.4:p.Ile84AsnfsTer4
ENST00000541292.5:c.250dup	ENSP00000441004.1:p.Ile84AsnfsTer4
NM_000288.3:c.250dup	NP_000279.1:p.Ile84AsnfsTer4
XM_005267019.3:c.136dup	XP_005267076.1:p.Ile46AsnfsTer4
XM_006715502.1:c.250dup	XP_006715565.1:p.Ile84AsnfsTer4
XM_011535900.1:c.250dup	XP_011534202.1:p.Ile84AsnfsTer4
XM_005267019.4:c.136dup	XP_005267076.1:p.Ile46AsnfsTer4
XM_006715502.2:c.250dup	XP_006715565.1:p.Ile84AsnfsTer4
XM_017010934.2:c.250dup	XP_016866423.1:p.Ile84AsnfsTer4
NM_000288.4:c.250dup MANE Select	NP_000279.1:p.Ile84AsnfsTer4