Canonical Allele Identifier: CA2683718126

Gene: PEX1

Linked Data

• gnomAD v4: 7-92502017-CTTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502020_92502022del , CM000669.2:g.92502020_92502022del	GRCh38
NC_000007.13:g.92131334_92131336del , CM000669.1:g.92131334_92131336del	GRCh37
NC_000007.12:g.91969270_91969272del	NCBI36
NG_008341.1:g.31512_31514del
NG_008341.2:g.31512_31514del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2286_2288del MANE Select	ENSP00000248633.4:p.Asn762del
ENST00000248633.8:c.2286_2288del	ENSP00000248633.4:p.Asn762del
ENST00000428214.5:c.2115_2117del	ENSP00000394413.1:p.Asn705del
ENST00000438045.5:c.1320_1322del	ENSP00000410438.1:p.Asn440del
ENST00000484913.5:n.2325_2327del
ENST00000496092.1:n.84_86del
ENST00000496420.5:n.1962_1964del
NM_000466.2:c.2286_2288del	NP_000457.1:p.Asn762del
NM_001282677.1:c.2115_2117del	NP_001269606.1:p.Asn705del
NM_001282678.1:c.1662_1664del	NP_001269607.1:p.Asn554del
XM_005250433.3:c.537_539del	XP_005250490.1:p.Asn179del
XR_242246.3:n.2382_2384del
XM_017012319.2:c.537_539del	XP_016867808.1:p.Asn179del
XR_001744808.2:n.1313_1315del
XR_242246.5:n.2333_2335del
NM_000466.3:c.2286_2288del MANE Select	NP_000457.1:p.Asn762del
NM_001282677.2:c.2115_2117del	NP_001269606.1:p.Asn705del
NM_001282678.2:c.1662_1664del	NP_001269607.1:p.Asn554del