Canonical Allele Identifier: CA16041170

Gene: PEX1

Linked Data

• ClinVar Variation Id: 371751
• ClinVar RCV Id: RCV000409956 ; RCV000411093
• dbSNP Id: rs1057517505
• MyVariant Identifiers: chr7:g.92146934_92146937dupTATA (hg19) ; chr7:g.92146933_92146934insTATA (hg19) ; chr7:g.92517620_92517623dupTATA (hg38) ; chr7:g.92517619_92517620insTATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517624_92517627dup , CM000669.2:g.92517624_92517627dup	GRCh38
NC_000007.13:g.92146938_92146941dup , CM000669.1:g.92146938_92146941dup	GRCh37
NC_000007.12:g.91984874_91984877dup	NCBI36
NG_008341.1:g.15909_15912dup
NG_008341.2:g.15909_15912dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.892_895dup MANE Select	ENSP00000248633.4:p.Asn299IlefsTer2
ENST00000248633.8:c.892_895dup	ENSP00000248633.4:p.Asn299IlefsTer2
ENST00000428214.5:c.892_895dup	ENSP00000394413.1:p.Asn299IlefsTer2
ENST00000438045.5:c.274-3656_274-3653dup	ENSP00000410438.1:n.274-3656_274-3653dup
ENST00000484913.5:n.931_934dup
NM_000466.2:c.892_895dup	NP_000457.1:p.Asn299IlefsTer2
NM_001282677.1:c.892_895dup	NP_001269606.1:p.Asn299IlefsTer2
NM_001282678.1:c.268_271dup	NP_001269607.1:p.Asn91IlefsTer2
XR_242246.3:n.988_991dup
XR_242246.5:n.939_942dup
NM_000466.3:c.892_895dup MANE Select	NP_000457.1:p.Asn299IlefsTer2
NM_001282677.2:c.892_895dup	NP_001269606.1:p.Asn299IlefsTer2
NM_001282678.2:c.268_271dup	NP_001269607.1:p.Asn91IlefsTer2