Canonical Allele Identifier: CA161973558

Gene: PEX1

Linked Data

• dbSNP Id: rs61750405
• MyVariant Identifiers: chr7:g.92146925del (hg19) ; chr7:g.92517611del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517611del , CM000669.2:g.92517611del	GRCh38
NC_000007.13:g.92146925del , CM000669.1:g.92146925del	GRCh37
NC_000007.12:g.91984861del	NCBI36
NG_008341.1:g.15921del
NG_008341.2:g.15921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.904del MANE Select	ENSP00000248633.4:p.Ala302GlnfsTer23
ENST00000248633.8:c.904del	ENSP00000248633.4:p.Ala302GlnfsTer23
ENST00000428214.5:c.904del	ENSP00000394413.1:p.Ala302GlnfsTer23
ENST00000438045.5:c.274-3644del	ENSP00000410438.1:n.274-3644del
ENST00000484913.5:n.943del
NM_000466.2:c.904del	NP_000457.1:p.Ala302GlnfsTer23
NM_001282677.1:c.904del	NP_001269606.1:p.Ala302GlnfsTer23
NM_001282678.1:c.280del	NP_001269607.1:p.Ala94GlnfsTer23
XR_242246.3:n.1000del
XM_017012319.2:c.-763del	XP_016867808.1:n.-763del
XR_001744808.2:n.14del
XR_242246.5:n.951del
NM_000466.3:c.904del MANE Select	NP_000457.1:p.Ala302GlnfsTer23
NM_001282677.2:c.904del	NP_001269606.1:p.Ala302GlnfsTer23
NM_001282678.2:c.280del	NP_001269607.1:p.Ala94GlnfsTer23