Canonical Allele Identifier: CA2683721166

Gene: PEX1

Linked Data

• gnomAD v4: 7-92519161-C-CTAAAATGGTAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519161_92519162insTAAAATGGTAAG , CM000669.2:g.92519161_92519162insTAAAATGGTAAG	GRCh38
NC_000007.13:g.92148475_92148476insTAAAATGGTAAG , CM000669.1:g.92148475_92148476insTAAAATGGTAAG	GRCh37
NC_000007.12:g.91986411_91986412insTAAAATGGTAAG	NCBI36
NG_008341.1:g.14370_14371insCTTACCATTTTA
NG_008341.2:g.14370_14371insCTTACCATTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.274-84_274-83insCTTACCATTTTA MANE Select	ENSP00000248633.4:n.274-84_274-83insCTTACCATTTTA
ENST00000248633.8:c.274-84_274-83insCTTACCATTTTA	ENSP00000248633.4:n.274-84_274-83insCTTACCATTTTA
ENST00000428214.5:c.274-84_274-83insCTTACCATTTTA	ENSP00000394413.1:n.274-84_274-83insCTTACCATTTTA
ENST00000438045.5:c.273+2940_273+2941insCTTACCATTTTA	ENSP00000410438.1:n.273+2940_273+2941insCTTACCATTTTA
ENST00000484913.5:n.278-84_278-83insCTTACCATTTTA
NM_000466.2:c.274-84_274-83insCTTACCATTTTA	NP_000457.1:n.274-84_274-83insCTTACCATTTTA
NM_001282677.1:c.274-84_274-83insCTTACCATTTTA	NP_001269606.1:n.274-84_274-83insCTTACCATTTTA
NM_001282678.1:c.-386-84_-386-83insCTTACCATTTTA	NP_001269607.1:n.-386-84_-386-83insCTTACCATTTTA
XR_242246.3:n.370-84_370-83insCTTACCATTTTA
XR_242246.5:n.321-84_321-83insCTTACCATTTTA
NM_000466.3:c.274-84_274-83insCTTACCATTTTA MANE Select	NP_000457.1:n.274-84_274-83insCTTACCATTTTA
NM_001282677.2:c.274-84_274-83insCTTACCATTTTA	NP_001269606.1:n.274-84_274-83insCTTACCATTTTA
NM_001282678.2:c.-386-84_-386-83insCTTACCATTTTA	NP_001269607.1:n.-386-84_-386-83insCTTACCATTTTA