Canonical Allele Identifier: CA2739265471

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2857985
• ClinVar RCV Id: RCV003759222

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501946del , CM000669.2:g.92501946del	GRCh38
NC_000007.13:g.92131260del , CM000669.1:g.92131260del	GRCh37
NC_000007.12:g.91969196del	NCBI36
NG_008341.1:g.31587del
NG_008341.2:g.31587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2361del MANE Select	ENSP00000248633.4:p.Val788TrpfsTer20
ENST00000248633.8:c.2361del	ENSP00000248633.4:p.Val788TrpfsTer20
ENST00000428214.5:c.2190del	ENSP00000394413.1:p.Val731TrpfsTer20
ENST00000438045.5:c.1395del	ENSP00000410438.1:p.Val466TrpfsTer20
ENST00000484913.5:n.2400del
ENST00000496092.1:n.159del
ENST00000496420.5:n.2037del
NM_000466.2:c.2361del	NP_000457.1:p.Val788TrpfsTer20
NM_001282677.1:c.2190del	NP_001269606.1:p.Val731TrpfsTer20
NM_001282678.1:c.1737del	NP_001269607.1:p.Val580TrpfsTer20
XM_005250433.3:c.612del	XP_005250490.1:p.Val205TrpfsTer20
XR_242246.3:n.2457del
XM_017012319.2:c.612del	XP_016867808.1:p.Val205TrpfsTer20
XR_001744808.2:n.1388del
XR_242246.5:n.2408del
NM_000466.3:c.2361del MANE Select	NP_000457.1:p.Val788TrpfsTer20
NM_001282677.2:c.2190del	NP_001269606.1:p.Val731TrpfsTer20
NM_001282678.2:c.1737del	NP_001269607.1:p.Val580TrpfsTer20