Canonical Allele Identifier: CA2683719163

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506320-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506322del , CM000669.2:g.92506322del	GRCh38
NC_000007.13:g.92135636del , CM000669.1:g.92135636del	GRCh37
NC_000007.12:g.91973572del	NCBI36
NG_008341.1:g.27211del
NG_008341.2:g.27211del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1827del MANE Select	ENSP00000248633.4:p.Ala611GlnfsTer?
ENST00000248633.8:c.1827del	ENSP00000248633.4:p.Ala611GlnfsTer?
ENST00000422866.1:c.645del
ENST00000428214.5:c.1827del	ENSP00000394413.1:p.Ala611GlnfsTer25
ENST00000438045.5:c.861del	ENSP00000410438.1:p.Ala289GlnfsTer?
ENST00000484913.5:n.1866del
ENST00000496420.5:n.1503del
NM_000466.2:c.1827del	NP_000457.1:p.Ala611GlnfsTer?
NM_001282677.1:c.1827del	NP_001269606.1:p.Ala611GlnfsTer25
NM_001282678.1:c.1203del	NP_001269607.1:p.Ala403GlnfsTer?
XM_005250433.3:c.78del	XP_005250490.1:p.Ala28GlnfsTer?
XR_242246.3:n.1923del
XM_017012319.2:c.78del	XP_016867808.1:p.Ala28GlnfsTer?
XR_001744808.2:n.854del
XR_242246.5:n.1874del
NM_000466.3:c.1827del MANE Select	NP_000457.1:p.Ala611GlnfsTer?
NM_001282677.2:c.1827del	NP_001269606.1:p.Ala611GlnfsTer25
NM_001282678.2:c.1203del	NP_001269607.1:p.Ala403GlnfsTer?