Canonical Allele Identifier: CA2683720496

Gene: PEX1

Linked Data

• gnomAD v4: 7-92517970-CGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517973_92517974del , CM000669.2:g.92517973_92517974del	GRCh38
NC_000007.13:g.92147287_92147288del , CM000669.1:g.92147287_92147288del	GRCh37
NC_000007.12:g.91985223_91985224del	NCBI36
NG_008341.1:g.15560_15561del
NG_008341.2:g.15560_15561del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.543_544del MANE Select	ENSP00000248633.4:p.Arg182ProfsTer11
ENST00000248633.8:c.543_544del	ENSP00000248633.4:p.Arg182ProfsTer11
ENST00000428214.5:c.543_544del	ENSP00000394413.1:p.Arg182ProfsTer11
ENST00000438045.5:c.274-4005_274-4004del	ENSP00000410438.1:n.274-4005_274-4004del
ENST00000484913.5:n.582_583del
NM_000466.2:c.543_544del	NP_000457.1:p.Arg182ProfsTer11
NM_001282677.1:c.543_544del	NP_001269606.1:p.Arg182ProfsTer11
NM_001282678.1:c.-82_-81del	NP_001269607.1:n.-82_-81del
XR_242246.3:n.639_640del
XR_242246.5:n.590_591del
NM_000466.3:c.543_544del MANE Select	NP_000457.1:p.Arg182ProfsTer11
NM_001282677.2:c.543_544del	NP_001269606.1:p.Arg182ProfsTer11
NM_001282678.2:c.-82_-81del	NP_001269607.1:n.-82_-81del