Canonical Allele Identifier: CA368204637

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1989671
• ClinVar RCV Id: RCV002795785
• dbSNP Id: rs1373553951
• gnomAD v2: 7-92151408-G-GTGCT
• gnomAD v4: 7-92522094-G-GTGCT
• MyVariant Identifiers: chr7:g.92151408_92151409insTGCT (hg19) ; chr7:g.92522094_92522095insTGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522096_92522099dup , CM000669.2:g.92522096_92522099dup	GRCh38
NC_000007.13:g.92151410_92151413dup , CM000669.1:g.92151410_92151413dup	GRCh37
NC_000007.12:g.91989346_91989349dup	NCBI36
NG_008341.1:g.11434_11437dup
NG_008341.2:g.11434_11437dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.273+4_273+7dup MANE Select	ENSP00000248633.4:n.273+4_273+7dup
ENST00000248633.8:c.273+4_273+7dup	ENSP00000248633.4:n.273+4_273+7dup
ENST00000428214.5:c.273+4_273+7dup	ENSP00000394413.1:n.273+4_273+7dup
ENST00000438045.5:c.273+4_273+7dup	ENSP00000410438.1:n.273+4_273+7dup
ENST00000484913.5:n.277+4_277+7dup
NM_000466.2:c.273+4_273+7dup	NP_000457.1:n.273+4_273+7dup
NM_001282677.1:c.273+4_273+7dup	NP_001269606.1:n.273+4_273+7dup
NM_001282678.1:c.-387+4_-387+7dup	NP_001269607.1:n.-387+4_-387+7dup
XR_242246.3:n.369+4_369+7dup
XR_242246.5:n.320+4_320+7dup
NM_000466.3:c.273+4_273+7dup MANE Select	NP_000457.1:n.273+4_273+7dup
NM_001282677.2:c.273+4_273+7dup	NP_001269606.1:n.273+4_273+7dup
NM_001282678.2:c.-387+4_-387+7dup	NP_001269607.1:n.-387+4_-387+7dup