Canonical Allele Identifier: CA16041157

Gene: PEX1

Linked Data

• ClinVar Variation Id: 371723
• ClinVar RCV Id: RCV000410249 ; RCV000412254
• dbSNP Id: rs1057517486
• MyVariant Identifiers: chr7:g.92134147_92134153dupGATGGCT (hg19) ; chr7:g.92134146_92134147insGATGGCT (hg19) ; chr7:g.92504833_92504839dupGATGGCT (hg38) ; chr7:g.92504832_92504833insGATGGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504834_92504840dup , CM000669.2:g.92504834_92504840dup	GRCh38
NC_000007.13:g.92134148_92134154dup , CM000669.1:g.92134148_92134154dup	GRCh37
NC_000007.12:g.91972084_91972090dup	NCBI36
NG_008341.1:g.28693_28699dup
NG_008341.2:g.28693_28699dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1964_1970dup MANE Select	ENSP00000248633.4:p.Val658AlafsTer8
ENST00000248633.8:c.1964_1970dup	ENSP00000248633.4:p.Val658AlafsTer8
ENST00000428214.5:c.1900+1409_1900+1415dup	ENSP00000394413.1:n.1900+1409_1900+1415dup
ENST00000438045.5:c.998_1004dup	ENSP00000410438.1:p.Val336AlafsTer8
ENST00000484913.5:n.2003_2009dup
ENST00000496420.5:n.1640_1646dup
NM_000466.2:c.1964_1970dup	NP_000457.1:p.Val658AlafsTer8
NM_001282677.1:c.1900+1409_1900+1415dup	NP_001269606.1:n.1900+1409_1900+1415dup
NM_001282678.1:c.1340_1346dup	NP_001269607.1:p.Val450AlafsTer8
XM_005250433.3:c.215_221dup	XP_005250490.1:p.Val75AlafsTer8
XR_242246.3:n.2060_2066dup
XM_017012319.2:c.215_221dup	XP_016867808.1:p.Val75AlafsTer8
XR_001744808.2:n.991_997dup
XR_242246.5:n.2011_2017dup
NM_000466.3:c.1964_1970dup MANE Select	NP_000457.1:p.Val658AlafsTer8
NM_001282677.2:c.1900+1409_1900+1415dup	NP_001269606.1:n.1900+1409_1900+1415dup
NM_001282678.2:c.1340_1346dup	NP_001269607.1:p.Val450AlafsTer8