Canonical Allele Identifier: CA913189464

Gene: PEX1

Linked Data

• ClinVar Variation Id: 632511
• ClinVar RCV Id: RCV000779544
• dbSNP Id: rs1562857333

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506319_92506320del , CM000669.2:g.92506319_92506320del	GRCh38
NC_000007.13:g.92135633_92135634del , CM000669.1:g.92135633_92135634del	GRCh37
NC_000007.12:g.91973569_91973570del	NCBI36
NG_008341.1:g.27213_27214del
NG_008341.2:g.27213_27214del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1829_1830del MANE Select	ENSP00000248633.4:p.Lys610SerfsTer4
ENST00000248633.8:c.1829_1830del	ENSP00000248633.4:p.Lys610SerfsTer4
ENST00000422866.1:c.647_648del
ENST00000428214.5:c.1829_1830del	ENSP00000394413.1:p.Lys610SerfsTer4
ENST00000438045.5:c.863_864del	ENSP00000410438.1:p.Lys288SerfsTer4
ENST00000484913.5:n.1868_1869del
ENST00000496420.5:n.1505_1506del
NM_000466.2:c.1829_1830del	NP_000457.1:p.Lys610SerfsTer4
NM_001282677.1:c.1829_1830del	NP_001269606.1:p.Lys610SerfsTer4
NM_001282678.1:c.1205_1206del	NP_001269607.1:p.Lys402SerfsTer4
XM_005250433.3:c.80_81del	XP_005250490.1:p.Lys27SerfsTer4
XR_242246.3:n.1925_1926del
XM_017012319.2:c.80_81del	XP_016867808.1:p.Lys27SerfsTer4
XR_001744808.2:n.856_857del
XR_242246.5:n.1876_1877del
NM_000466.3:c.1829_1830del MANE Select	NP_000457.1:p.Lys610SerfsTer4
NM_001282677.2:c.1829_1830del	NP_001269606.1:p.Lys610SerfsTer4
NM_001282678.2:c.1205_1206del	NP_001269607.1:p.Lys402SerfsTer4