Canonical Allele Identifier: CA658822687

Gene: PEX1

Linked Data

• ClinVar Variation Id: 557750
• ClinVar RCV Id: RCV000673928 ; RCV001214601 ; RCV001293548
• dbSNP Id: rs1256376226
• gnomAD v3: 7-92496735-CT-C
• gnomAD v4: 7-92496735-CT-C
• MyVariant Identifiers: chr7:g.92126050del (hg19) ; chr7:g.92496736del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496737del , CM000669.2:g.92496737del	GRCh38
NC_000007.13:g.92126051del , CM000669.1:g.92126051del	GRCh37
NC_000007.12:g.91963987del	NCBI36
NG_008341.1:g.36796del
NG_008341.2:g.36796del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2760del MANE Select	ENSP00000248633.4:p.Ala921LeufsTer?
ENST00000248633.8:c.2760del	ENSP00000248633.4:p.Ala921LeufsTer?
ENST00000428214.5:c.2589del	ENSP00000394413.1:p.Ala864LeufsTer?
ENST00000438045.5:c.1794del	ENSP00000410438.1:p.Ala599LeufsTer?
ENST00000484913.5:n.2799del
ENST00000496420.5:n.2652del
NM_000466.2:c.2760del	NP_000457.1:p.Ala921LeufsTer?
NM_001282677.1:c.2589del	NP_001269606.1:p.Ala864LeufsTer?
NM_001282678.1:c.2136del	NP_001269607.1:p.Ala713LeufsTer?
XM_005250433.3:c.1011del	XP_005250490.1:p.Ala338LeufsTer?
XR_242246.3:n.2856del
XM_017012319.2:c.1011del	XP_016867808.1:p.Ala338LeufsTer?
XR_001744808.2:n.1787del
XR_242246.5:n.2807del
NM_000466.3:c.2760del MANE Select	NP_000457.1:p.Ala921LeufsTer?
NM_001282677.2:c.2589del	NP_001269606.1:p.Ala864LeufsTer?
NM_001282678.2:c.2136del	NP_001269607.1:p.Ala713LeufsTer?