Canonical Allele Identifier: CA2683720373

Gene: PEX1

Linked Data

• gnomAD v4: 7-92517722-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517724_92517725del , CM000669.2:g.92517724_92517725del	GRCh38
NC_000007.13:g.92147038_92147039del , CM000669.1:g.92147038_92147039del	GRCh37
NC_000007.12:g.91984974_91984975del	NCBI36
NG_008341.1:g.15808_15809del
NG_008341.2:g.15808_15809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.791_792del MANE Select	ENSP00000248633.4:p.Ser264LeufsTer5
ENST00000248633.8:c.791_792del	ENSP00000248633.4:p.Ser264LeufsTer5
ENST00000428214.5:c.791_792del	ENSP00000394413.1:p.Ser264LeufsTer5
ENST00000438045.5:c.274-3757_274-3756del	ENSP00000410438.1:n.274-3757_274-3756del
ENST00000484913.5:n.830_831del
NM_000466.2:c.791_792del	NP_000457.1:p.Ser264LeufsTer5
NM_001282677.1:c.791_792del	NP_001269606.1:p.Ser264LeufsTer5
NM_001282678.1:c.167_168del	NP_001269607.1:p.Ser56LeufsTer5
XR_242246.3:n.887_888del
XR_242246.5:n.838_839del
NM_000466.3:c.791_792del MANE Select	NP_000457.1:p.Ser264LeufsTer5
NM_001282677.2:c.791_792del	NP_001269606.1:p.Ser264LeufsTer5
NM_001282678.2:c.167_168del	NP_001269607.1:p.Ser56LeufsTer5