Canonical Allele Identifier: CA10606193

Gene: PEX1

Linked Data

• ClinVar Variation Id: 288706
• ClinVar RCV Id: RCV000322197 ; RCV000672469 ; RCV001222626
• dbSNP Id: rs886043984
• gnomAD v4: 7-92499783-TACA-T
• MyVariant Identifiers: chr7:g.92129098_92129100del (hg19) ; chr7:g.92499784_92499786del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499787_92499789del , CM000669.2:g.92499787_92499789del	GRCh38
NC_000007.13:g.92129101_92129103del , CM000669.1:g.92129101_92129103del	GRCh37
NC_000007.12:g.91967037_91967039del	NCBI36
NG_008341.1:g.33746_33748del
NG_008341.2:g.33746_33748del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2636_2638del MANE Select	ENSP00000248633.4:p.Leu879del
ENST00000248633.8:c.2636_2638del	ENSP00000248633.4:p.Leu879del
ENST00000428214.5:c.2465_2467del	ENSP00000394413.1:p.Leu822del
ENST00000438045.5:c.1670_1672del	ENSP00000410438.1:p.Leu557del
ENST00000484913.5:n.2675_2677del
ENST00000496420.5:n.2528_2530del
NM_000466.2:c.2636_2638del	NP_000457.1:p.Leu879del
NM_001282677.1:c.2465_2467del	NP_001269606.1:p.Leu822del
NM_001282678.1:c.2012_2014del	NP_001269607.1:p.Leu671del
XM_005250433.3:c.887_889del	XP_005250490.1:p.Leu296del
XR_242246.3:n.2732_2734del
XM_017012319.2:c.887_889del	XP_016867808.1:p.Leu296del
XR_001744808.2:n.1663_1665del
XR_242246.5:n.2683_2685del
NM_000466.3:c.2636_2638del MANE Select	NP_000457.1:p.Leu879del
NM_001282677.2:c.2465_2467del	NP_001269606.1:p.Leu822del
NM_001282678.2:c.2012_2014del	NP_001269607.1:p.Leu671del