Canonical Allele Identifier: CA2683720133

Gene: PEX1

Linked Data

• gnomAD v4: 7-92517406-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517414_92517415del , CM000669.2:g.92517414_92517415del	GRCh38
NC_000007.13:g.92146728_92146729del , CM000669.1:g.92146728_92146729del	GRCh37
NC_000007.12:g.91984664_91984665del	NCBI36
NG_008341.1:g.16124_16125del
NG_008341.2:g.16124_16125del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1107_1108del MANE Select	ENSP00000248633.4:p.Lys369AsnfsTer2
ENST00000248633.8:c.1107_1108del	ENSP00000248633.4:p.Lys369AsnfsTer2
ENST00000422866.1:c.8_9del
ENST00000428214.5:c.1107_1108del	ENSP00000394413.1:p.Lys369AsnfsTer2
ENST00000438045.5:c.274-3441_274-3440del	ENSP00000410438.1:n.274-3441_274-3440del
ENST00000484913.5:n.1146_1147del
NM_000466.2:c.1107_1108del	NP_000457.1:p.Lys369AsnfsTer2
NM_001282677.1:c.1107_1108del	NP_001269606.1:p.Lys369AsnfsTer2
NM_001282678.1:c.483_484del	NP_001269607.1:p.Lys161AsnfsTer2
XR_242246.3:n.1203_1204del
XM_017012319.2:c.-560_-559del	XP_016867808.1:n.-560_-559del
XR_001744808.2:n.217_218del
XR_242246.5:n.1154_1155del
NM_000466.3:c.1107_1108del MANE Select	NP_000457.1:p.Lys369AsnfsTer2
NM_001282677.2:c.1107_1108del	NP_001269606.1:p.Lys369AsnfsTer2
NM_001282678.2:c.483_484del	NP_001269607.1:p.Lys161AsnfsTer2