Canonical Allele Identifier: CA2683718926

Gene: PEX1

Linked Data

• gnomAD v4: 7-92501925-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501926_92501927del , CM000669.2:g.92501926_92501927del	GRCh38
NC_000007.13:g.92131240_92131241del , CM000669.1:g.92131240_92131241del	GRCh37
NC_000007.12:g.91969176_91969177del	NCBI36
NG_008341.1:g.31605_31606del
NG_008341.2:g.31605_31606del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2379_2380del MANE Select	ENSP00000248633.4:p.Arg795ThrfsTer?
ENST00000248633.8:c.2379_2380del	ENSP00000248633.4:p.Arg795ThrfsTer?
ENST00000428214.5:c.2208_2209del	ENSP00000394413.1:p.Arg738ThrfsTer?
ENST00000438045.5:c.1413_1414del	ENSP00000410438.1:p.Arg473ThrfsTer?
ENST00000484913.5:n.2418_2419del
ENST00000496092.1:n.177_178del
ENST00000496420.5:n.2055_2056del
NM_000466.2:c.2379_2380del	NP_000457.1:p.Arg795ThrfsTer?
NM_001282677.1:c.2208_2209del	NP_001269606.1:p.Arg738ThrfsTer?
NM_001282678.1:c.1755_1756del	NP_001269607.1:p.Arg587ThrfsTer?
XM_005250433.3:c.630_631del	XP_005250490.1:p.Arg212ThrfsTer?
XR_242246.3:n.2475_2476del
XM_017012319.2:c.630_631del	XP_016867808.1:p.Arg212ThrfsTer?
XR_001744808.2:n.1406_1407del
XR_242246.5:n.2426_2427del
NM_000466.3:c.2379_2380del MANE Select	NP_000457.1:p.Arg795ThrfsTer?
NM_001282677.2:c.2208_2209del	NP_001269606.1:p.Arg738ThrfsTer?
NM_001282678.2:c.1755_1756del	NP_001269607.1:p.Arg587ThrfsTer?