Canonical Allele Identifier: CA538129

Gene: PEX10

Linked Data

• ClinVar Variation Id: 2677657
• ClinVar RCV Id: RCV003476791
• dbSNP Id: rs773164888
• ExAC: 1:2339898 AT / A
• gnomAD v2: 1-2339898-AT-A
• gnomAD v4: 1-2408459-AT-A
• MyVariant Identifiers: chr1:g.2339899del (hg19) ; chr1:g.2408460del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408460del , CM000663.2:g.2408460del	GRCh38
NC_000001.10:g.2339899del , CM000663.1:g.2339899del	GRCh37
NC_000001.9:g.2329759del	NCBI36
NG_008342.1:g.9112del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.592del	ENSP00000288774.3:p.Ile198SerfsTer6
ENST00000447513.7:c.592del MANE Select	ENSP00000407922.2:p.Ile198SerfsTer14
ENST00000650293.1:c.546del
ENST00000288774.7:c.592del	ENSP00000288774.3:p.Ile198SerfsTer6
ENST00000447513.6:c.592del	ENSP00000407922.2:p.Ile198SerfsTer14
ENST00000507596.5:c.592del	ENSP00000424291.1:p.Ile198SerfsTer14
ENST00000510434.1:c.592del	ENSP00000423051.1:p.Ile198SerfsTer17
NM_002617.3:c.592del	NP_002608.1:p.Ile198SerfsTer14
NM_153818.1:c.592del	NP_722540.1:p.Ile198SerfsTer6
XM_011541573.1:c.592del	XP_011539875.1:p.Ile198SerfsTer5
XM_011541574.1:c.160del	XP_011539876.1:p.Ile54SerfsTer5
XM_011541575.1:c.160del	XP_011539877.1:p.Ile54SerfsTer5
XM_011541576.1:c.592del	XP_011539878.1:p.Ile198SerfsTer?
XR_946666.1:n.712del
XM_011541576.2:c.592del	XP_011539878.1:p.Ile198SerfsTer?
XR_946666.2:n.661del
NM_001374425.1:c.592del	NP_001361354.1:p.Ile198SerfsTer5
NM_001374426.1:c.160del	NP_001361355.1:p.Ile54SerfsTer5
NM_001374427.1:c.160del	NP_001361356.1:p.Ile54SerfsTer14
NM_002617.4:c.592del MANE Select	NP_002608.1:p.Ile198SerfsTer14
NM_153818.2:c.592del	NP_722540.1:p.Ile198SerfsTer6
NR_164636.1:n.711del