Canonical Allele Identifier: CA2683719162

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506268-ACTCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506272_92506275del , CM000669.2:g.92506272_92506275del	GRCh38
NC_000007.13:g.92135586_92135589del , CM000669.1:g.92135586_92135589del	GRCh37
NC_000007.12:g.91973522_91973525del	NCBI36
NG_008341.1:g.27260_27263del
NG_008341.2:g.27260_27263del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1876_1879del MANE Select	ENSP00000248633.4:p.Arg626LeufsTer18
ENST00000248633.8:c.1876_1879del	ENSP00000248633.4:p.Arg626LeufsTer18
ENST00000422866.1:c.694_697del
ENST00000428214.5:c.1876_1879del	ENSP00000394413.1:p.Arg626LeufsTer9
ENST00000438045.5:c.910_913del	ENSP00000410438.1:p.Arg304LeufsTer18
ENST00000484913.5:n.1915_1918del
ENST00000496420.5:n.1552_1555del
NM_000466.2:c.1876_1879del	NP_000457.1:p.Arg626LeufsTer18
NM_001282677.1:c.1876_1879del	NP_001269606.1:p.Arg626LeufsTer9
NM_001282678.1:c.1252_1255del	NP_001269607.1:p.Arg418LeufsTer18
XM_005250433.3:c.127_130del	XP_005250490.1:p.Arg43LeufsTer18
XR_242246.3:n.1972_1975del
XM_017012319.2:c.127_130del	XP_016867808.1:p.Arg43LeufsTer18
XR_001744808.2:n.903_906del
XR_242246.5:n.1923_1926del
NM_000466.3:c.1876_1879del MANE Select	NP_000457.1:p.Arg626LeufsTer18
NM_001282677.2:c.1876_1879del	NP_001269606.1:p.Arg626LeufsTer9
NM_001282678.2:c.1252_1255del	NP_001269607.1:p.Arg418LeufsTer18