Canonical Allele Identifier: CA2580077844

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1725575
• ClinVar RCV Id: RCV002309259

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517885_92517886delinsT , CM000669.2:g.92517885_92517886delinsT	GRCh38
NC_000007.13:g.92147199_92147200delinsT , CM000669.1:g.92147199_92147200delinsT	GRCh37
NC_000007.12:g.91985135_91985136delinsT	NCBI36
NG_008341.1:g.15646_15647delinsA
NG_008341.2:g.15646_15647delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.629_630delinsA MANE Select	ENSP00000248633.4:p.Met210LysfsTer?
ENST00000248633.8:c.629_630delinsA	ENSP00000248633.4:p.Met210LysfsTer?
ENST00000428214.5:c.629_630delinsA	ENSP00000394413.1:p.Met210LysfsTer?
ENST00000438045.5:c.274-3919_274-3918delinsA	ENSP00000410438.1:n.274-3919_274-3918delinsA
ENST00000484913.5:n.668_669delinsA
NM_000466.2:c.629_630delinsA	NP_000457.1:p.Met210LysfsTer?
NM_001282677.1:c.629_630delinsA	NP_001269606.1:p.Met210LysfsTer?
NM_001282678.1:c.5_6delinsA	NP_001269607.1:p.Met2LysfsTer?
XR_242246.3:n.725_726delinsA
XR_242246.5:n.676_677delinsA
NM_000466.3:c.629_630delinsA MANE Select	NP_000457.1:p.Met210LysfsTer?
NM_001282677.2:c.629_630delinsA	NP_001269606.1:p.Met210LysfsTer?
NM_001282678.2:c.5_6delinsA	NP_001269607.1:p.Met2LysfsTer?