Canonical Allele Identifier: CA2683720484

Gene: PEX1

Linked Data

• gnomAD v4: 7-92517811-ATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517815_92517816del , CM000669.2:g.92517815_92517816del	GRCh38
NC_000007.13:g.92147129_92147130del , CM000669.1:g.92147129_92147130del	GRCh37
NC_000007.12:g.91985065_91985066del	NCBI36
NG_008341.1:g.15719_15720del
NG_008341.2:g.15719_15720del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.702_703del MANE Select	ENSP00000248633.4:p.Glu234AspfsTer4
ENST00000248633.8:c.702_703del	ENSP00000248633.4:p.Glu234AspfsTer4
ENST00000428214.5:c.702_703del	ENSP00000394413.1:p.Glu234AspfsTer4
ENST00000438045.5:c.274-3846_274-3845del	ENSP00000410438.1:n.274-3846_274-3845del
ENST00000484913.5:n.741_742del
NM_000466.2:c.702_703del	NP_000457.1:p.Glu234AspfsTer4
NM_001282677.1:c.702_703del	NP_001269606.1:p.Glu234AspfsTer4
NM_001282678.1:c.78_79del	NP_001269607.1:p.Glu26AspfsTer4
XR_242246.3:n.798_799del
XR_242246.5:n.749_750del
NM_000466.3:c.702_703del MANE Select	NP_000457.1:p.Glu234AspfsTer4
NM_001282677.2:c.702_703del	NP_001269606.1:p.Glu234AspfsTer4
NM_001282678.2:c.78_79del	NP_001269607.1:p.Glu26AspfsTer4