Canonical Allele Identifier: CA213121

Gene: PEX1

Linked Data

• ClinVar Variation Id: 7519
• ClinVar RCV Id: RCV000007953 ; RCV000078918 ; RCV000201307 ; RCV000500705 ; RCV000853332 ; RCV000850579 ; RCV001004324 ; RCV001073754 ; RCV001376645 ; RCV002512885 ; RCV003415676 ; RCV003335020
• dbSNP Id: rs61750415
• ExAC: 7:92132483 T / TA
• gnomAD v2: 7-92132483-T-TA
• gnomAD v3: 7-92503169-T-TA
• gnomAD v4: 7-92503169-T-TA
• MyVariant Identifiers: chr7:g.92132484dup (hg19) ; chr7:g.92132484dupA (hg19) ; chr7:g.92132483_92132484insA (hg19) ; chr7:g.92503170dupA (hg38) ; chr7:g.92503169_92503170insA (hg38)
• PubMed: PMID:1301993 ; PMID:2063923 ; PMID:9398847 ; PMID:10447258 ; PMID:12402331 ; PMID:15098231 ; PMID:16141001 ; PMID:17055079 ; PMID:20952722 ; PMID:21031596 ; PMID:23757202 ; PMID:26387595

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503172dup , CM000669.2:g.92503172dup	GRCh38
NC_000007.13:g.92132486dup , CM000669.1:g.92132486dup	GRCh37
NC_000007.12:g.91970422dup	NCBI36
NG_008341.1:g.30362dup
NG_008341.2:g.30362dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2097dup MANE Select	ENSP00000248633.4:p.Ile700TyrfsTer?
ENST00000248633.8:c.2097dup	ENSP00000248633.4:p.Ile700TyrfsTer?
ENST00000428214.5:c.1926dup	ENSP00000394413.1:p.Ile643TyrfsTer?
ENST00000438045.5:c.1131dup	ENSP00000410438.1:p.Ile378TyrfsTer?
ENST00000484913.5:n.2136dup
ENST00000496420.5:n.1773dup
NM_000466.2:c.2097dup	NP_000457.1:p.Ile700TyrfsTer?
NM_001282677.1:c.1926dup	NP_001269606.1:p.Ile643TyrfsTer?
NM_001282678.1:c.1473dup	NP_001269607.1:p.Ile492TyrfsTer?
XM_005250433.3:c.348dup	XP_005250490.1:p.Ile117TyrfsTer?
XR_242246.3:n.2193dup
XM_017012319.2:c.348dup	XP_016867808.1:p.Ile117TyrfsTer?
XR_001744808.2:n.1124dup
XR_242246.5:n.2144dup
NM_000466.3:c.2097dup MANE Select	NP_000457.1:p.Ile700TyrfsTer?
NM_001282677.2:c.1926dup	NP_001269606.1:p.Ile643TyrfsTer?
NM_001282678.2:c.1473dup	NP_001269607.1:p.Ile492TyrfsTer?